Mouse Mutant Resource: Available mouse models

Below is a list of mutation-bearing strains characterized since 2003, listed alphabetically by gene. For mutations that have not yet been cloned, the loci are listed as "Unknown" at the bottom of the table.

Mouse gene symbols link to gene information in the Mouse Genome Informatics (MGI) database. MGI contains links to detailed genetic maps, all published references, phenotypic data and other useful information.
Mutation names link to MMR online or peer-reviewed articles describing the origin and description, pathology and genetic analysis of the mutation.
Human gene symbols link to orthologous human genes in the Online Mendelian Inheritance in Man (OMIM) database, where known. Associated diseases are also shown.

The mouse genomic variants described in the "Mutation" column of this table have been nominated by the Mouse Mutant Resource asmost likely causative mutations. In many instances, the mutation is strongly substantiated due to similarity of the phenotype with previously characterized, similar phenotypes associated with the same gene. Sequencing data are generated to reveal the mutation and in some cases, causation is proven by complementation test or, in rare cases, by phenotypic rescue using a wild-type transgene. In other cases, candidacy of a particular variant is substantiated by our understanding of the candidate gene and its likely relevance to the observed phenotype, and by the presence of a potentially damaging mutation within the phenotypically defined genetic interval. In the latter cases (where complementation or some other type of phenotypic rescue has not been performed), investigators are advised to confirm causation by independent means in their own laboratories.

The extent to which any given mouse model is known to parallel a human disease can be determined by an examination of the relevant literature and is open to scientific inquiry by interested investigators.

Strains marked with an asterisk(*) are available as DNA only. All other listed strains, and additional mutant strains developed before 2003, are available from JAX^® Mice

Stock Number	Gene Symbol	Mutation/allelic series and mutation name	Key phenotypes	Human ortholog and associated human diseases
002560	Aars	Aarssti sticky	nervous system, behavior, integument	AARS Charocot-Marie-Tooth disease, axonal, type 2N
001830	Abcg5	Abcg5trac Thrombocytopenia and cardiomyopathy	cardiovascular, cellular, metabolic, hematopoietic system, immune system	ABCG5 Sistosterolemia
000537 004518 005501* 008292*	Agtpbp1	Agtpbp1pcd Purkinje cell degeneration Agtpbp1pcd-5J Purkinje cell degeneration 5 Jackson Agtpbp1pcd-7J Purkinje cell degeneration 7 Jackson Agtpbp1pcd-8J Purkinje cell degeneration 8 Jackson	neurological	AGTPBP1
009157	Ank1	Ank1pale pale lethal	lethal, color	ANK1 Spherocytosis, type 1
005444* 005532* 005952* 005961*	Ap3b1	Ap3b1pe-13J pearl 13 Jackson Ap3b1pe-14J pearl 14 Jackson Ap3b1pe-15J pearl 15 Jackson Ap3b1pe-16J pearl 16 Jackson	coat color	AP3B1 Hermansky-Pudlak Syndrome 2
008113	Ap3b2	Ap3b2m2J mutation 2 Jackson	neurological	AP3B2
022088	Ap3d1	Ap3d1mh-4J mocha 4 Jackson	neurological, coat color	AP3D1 Hermansky-Pudlack Syndrome
005598	Arsb	Arsbm1J mutation 1 Jackson	craniofacial, skeletal, neurological, hearing	ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
006449	Ass1	Ass1fold follicular dystrophy	skin and hair	ASS1 Citrullinemia
005042*	Atp7a	Atp7aMo-pew3J pewter 3 Jackson	coat color, neurological	ATP7A Menkes disease; Spinal muscular atrophy, distal, X-linked 3; Occipital horn syndrome
007623	Bloc1s4	Bloc1s4cno cappuccino	pigmentation, hematopoietic, vision/eye, behavior, cellular, integument	BLOC1S4Hermansky-Pudlak syndrome
005420 005421	Bmp5	Bmp5cfe-se7J cauliflower ear-short ear 7 Jackson Bmp5cfe-se8J cauliflower ear-short ear 8 Jackson	ear	BMP5
008622 008623 013083*	Cacna1a	Cacna1atg-4J tottering 4 Jackson Cacna1atg-5J tottering 5 Jackson Cacna1atg-7J tottering 7 Jackson	behavior, neurological mortality/aging, behavior/neurological neurological	CACNA1A Episodic ataxia, type 2; Migraine, familial hemiplegic 1; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6
001678	Cacna1f	Cacna1fnob2 no b-wave 2	vision/eye, nervous system	CACNA1F Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary, X-linked, type 2A
004951 007499*	Cacnb4	Cacnb4lh-3J lethargic 3 Jackson Cacnb4lh-4J lethargic 4 Jackson	neurological	CACNB4 Episodic ataxia, type 5; (Epilepsy, idiopathic generalized, susceptibility to, 9); (Epilepsy, juvenile myoclonic, susceptibility to, 6);
004625	Car8	Car8wdl waddles	abnormal movement	CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
003761* 008288*	Cdh23	Cdh23v-7J waltzer 7 Jackson Cdh23v-11J waltzer 11 Jackson	circling, hearing loss, head tossing: neurological/behavioral: anomalies in motor capabilities, coordination, and movement	CDH23 Usher syndrome, type 1D/F digenic; Deafness, autosomal recessive 12; Deafness, autosomal recessive 12;
000031	Cep290	Cep290rd16 retinal degeneration 16	vision/eye, pigmentation, nervous system	CEP290 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome type 4 Senior-Loken syndrome 6
008253*	Clcn1	Clcn1mto-9J myotonia 9 Jackson	neurological	CLCN1 Myotonia congenita, dominant; Myotonia congenita, recessive; Myotonia levior, recessive
014631	Clec16a	Clec16acurt curvy tail	skeletal, neurological	CLEC16A
002648	Cln6	Cln6nclf neuronal ceroid lipofuscinosis	behavior, nervous system, vision/eye, aging	CLN6 Ceroid lipofuscinosis, neuronal, 6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset
004965	Clic5	Clic5jbg jitterbug	hearing/vestibular/ ear, behavior, nervous system, respiratory	CLIC5
002717	Cntn1	Cntn1m1J mutation 1 Jackson	neurological	CNTN1 Myopathy, congenital, Compton-North
010823	Cntnap1	Cntnap1^shm-5J shambling 5 Jackson	neurological	CNTNAP1
012724 016585 003916	Col2a1	Col2a1^M2Jmutation 2 Jackson Col2a1^M3J mutation 3 Jackson Col2a1^sedchttp://www.ncbi.nlm.nih.gov/pubmed/12968670spondyloephiphyseal dysplasia congenita	craniofacial, digestive/alimentary craniofacial behavior, eye/vision, hearing/vestibular, growth/size, nervous system	COL2A1 Achondrogenesis, type II or hypochondrogenesis Avascular necrosis of the femoral head Czech dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Kniest dysplasia Legg-Calve-Perthes disease Osteoarthritis with mild chondrodysplasia Otospondylomegaepiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type SED congenita SED, Namaqualand type SMED Strudwick type Spondyloperipheral dysplasia Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome, type I Vitreoretinopathy with phalangeal epiphyseal dysplasia
006408 010970 016903	Dab1	Dab1scm-3J scrambler 3 Jackson Dab1scm-4J scrambler 4 Jackson Dab1scm-5J scrambler 5 Jackson	neurological/behavioral: abnormal motor capabilities/coordination/ movement/balance/ physical strength	DAB1
004196*	Dcc	Dcckanga kanga	behavior, nervous system, cellular	DCC Colorectal cancer Mirror movements, congenital
005040	Dll3	Dll3pu-J pudgy Jackson	tail, skeleton	DLL3 Spondylocostal dysostosis, autosomal recessive, 1
008000 006038 006046	Dscam	Dscamdel17 deletion in exon 17 Dscam2J 2 Jackson Dscam3J 3 Jackson	mortality/aging, nervous system, vision/eye behavior, craniofacial, skeleton, vision/eye, nervous system	DSCAM
005543	Duox2	Duox2thyd dual oxidase 2; thyroid dishormonogenesis	endocrine, metabolic, hearing, skeletal	DUOX2 Thyroid dyshormonogenesis 6
005135	Edn3 (unproven)	Edn3Sls semidominant lethal spotting	color spotting, homozygous lethality at weaning age	EDN3 (presumed) Central hypoventilation syndrome, congenital; Waardenburg syndrome, type 4B; (Hirschsprung disease, susceptibility to, 4)
006045	Eif3c	Eif3cXsl extra-toes spotting-like	skeletal, color spotting	EIF3C
012810	Enpp1	Enpp1 ^asj ages with stiffened joints	skeletal	ENPP1 Arterial calcification, generalized, of infancy Hypophosphatemic rickets, autosomal recessive, 2 Ossification of posterior longitudinal ligament of spine (Diabetes mellitus, non-insulin-dependent, susceptibility to) (Obesity, susceptibility to)
001502 003129	Epha4	Epha4^rbrabbitEpha4^rb-2Jrabbit 2 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement	EPHA4
004774	Fam83g	Fam83gwly wooly	skin and hair	FAM83G
021490	Fbn2	Fbn2fp-4J	skeleton, limbs & digits, eye	FBN2 Contractural arachnodactyly, congenital Macular degeneration, early-onset
005412	Fgfr1	Fgfr1Eask ear askew	craniofacial	FGFR1 Hypogonadotropic hypogonadism Jackson-Weiss syndrome Kallman syndrome 2 Osteoglophonic dysplasia Pfeiffer syndrome Trigonocephaly 1
014182	Fgfr3	Fgfr3m1J mutation 1 Jackson	skeletal, hearing	FGFR3 Achondroplasia; Bladder cancer, somatic; CATSHL syndrome; Cervical cancer, somatic; Colorectal cancer, somatic; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; Nevus, keratinocytic, nonepidermolytic; Spermatocytic seminoma, somatic; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II;
016195	Foxn1	Foxn1nu-2J nude 2 Jackson	athymic, skin, hair	FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
006857	Frem2	Frem2 ne no eyelid	eye, skeleton, coat color, kidney	FREM2 Fraser syndrome
003613	Galc	Galctwi-5J twitcher 5 Jackson	neurological	GALC Krabbe disease
014183 021333	Gdf5	Gdf5bp-4J Brachypodism 4 Jackson Gdf5Bp-5J Brachypodism 4 Jackson	skeletal	GDF5 Hunter-Thompson type acromesomelic dysplasia Grebe type chondrodysplasia type A2 brachydactyly type C brachydactyly Fibular hypoplasia and complex brachydactyly Multiple synostoses syndrome 2 proximal symphalangism osteoarthritis
006795	Gnat2	Gnat2cpfl3 cone photoreceptor function loss 3	Vision/eye, nervous system, cardiovascular	GNAT2 Achromatopsia-4
004688*	Grem1	Grem1ld-3J limb deformity 3 Jackson	skeletal defects, limbs	GREM1
014101	Grhl1	Grhl1m1J mutation 1 Jackson	skin and hair	GRHL1
005344* 021782 017687	Grid2	Grid2ho-15J hotfoot 15 Jackson Grid2ho-18J hotfoot 18 Jackson Grid2ho-19J hotfoot 19 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement	GRID2
005494 005271* 005521 006009*	Grm1	Grm1rcw recoil wobbler Grm1rcw-2J recoil wobbler 2 Jackson Grm1rcw-3J recoil wobbler 3 Jackson Grm1rcw-4J recoil wobbler 4 Jackson	neurological, behavioral	GRM1
005354	Gulo	Gulosfx-2J spontaneous fracture 2 Jackson	skeletal	GULOP (Gulo pseudogene) hypoascorbemia
005898	Hcn2	Hcn2 trills tremor and reduced lifespan	neurological	HCN2
008723		Hcn2 trls-2J tremor and reduced lifespan 2 Jackson
015824 008676	Hmx1	Hmx1dmbo dumbo Hmx1mpe misplaced ears	craniofacial, vision/eye, hearing/vestibular/ear, growth/size craniofacial, growth/size, hearing/vestibular/ear	HMX1 Oculoauricula syndrome
006656* 007711	Hps3	Hps3coa-7J cocoa 7 Jackson Hps3coa-8J cocoa 8 Jackson	coat color	HPS3 Hermansky-Pudlak syndrome 3
000577	Hps5	Hps5ru2 ruby eye 2	coat color	HPS5 Hermansky-Pudlak syndrome 5
000103 005559* 009368*	Hps6	Hps6ru ruby-eye Hps6ru-7J ruby-eye 7 Jackson Hps6ru-8J ruby-eye 8 Jackson	coat color	HPS6 Hermansky-Pudlak syndrome 6
021500	Hr	Hr^rh-10Jrhino 10 Jackson	hair, integument	HR Alopecia universalis Atrichia with papular lesions Hypotrichosis, hereditary, Marie Unna type 1
006428	Hydin	Hydinhyrh hydrocephalus and rhinitis	craniofacial	HYDIN
001768	Irs1	Irs1Sml small	growth/size, skeletal, metabolic, limbs	IRS1 (Coronary artery disease, susceptibility to) Diabetes mellitus, noninsulin-dependent)
013589 016099 014106 014105	Kcnn2	Kcnn2bc-6J bouncy 6 Jackson Kcnn2bc-7J bouncy 7 Jackson Kcnn2bc-8J bouncy 8 Jackson Kcnn2bc-9J bouncy 9 Jackson	neurological, ataxia and tremor	KCNN2

004407	Kcnq1	Kcnq1vtg-2J vertigo 2 Jackson	head tossing/bobbing, deafness; neurological/behavioral: anomalies in motor capabilities, coordination, and movement	KCNQ1 Atrial fibrillation, familial, 3; Jervell and Lange-Nielsen syndrome; Short QT syndrome-2; Long QT syndrome-1; (Long QT syndrome 1, acquired, susceptibility to)
000169 000062 000121 006564 001563 021149	Kit	Kitw-20J dominant spotting 20 Jackson Kitw-39J dominant spotting 39 Jackson Kitw-40J dominant spotting 40 Jackson Kitw-41J dominant spotting 41 Jackson Kitw-73J dominant spotting 73 Jackson Kitw-85J dominant spotting 85 Jackson	pigmentation, integument, mortality, hematopoeitic, endocrine/exocrin	KIT Gastrointestinal stromal tumor, somatic Germ cell tumors Leukemia, acute myeloid Mast cell leukemia Mastocytosis with associated hematologic disorder Piebaldism
006108* 006839* 006961* 014608	Kitl	KitlSl-21J steel 21 Jackson KitlSl-22J steel 22 Jackson KitlSl-23J steel 23 Jackson Kitl sl-24J steel 24 Jackson	coat color and belly spot	KITLG Hyperpigmentation, familial progressive, 2 (Skin/hair/eye pigmentation 7, blond/brown hair)
017307* 022312 021060	Krt71	Krt71^Ca-17J caracul 17 JacksonKrt71^Ca-18Jcaracul 18 JacksonKrt71^Ca-19Jcaracul 19 Jackson	hair	KRT71
005736 005123* 005131* 005211* 005409*	Krt71 (unproven)	calre caracul-like recessive Cal4 caracul-like 4 Cal5 caracul-like 5 Cal6 caracul-like 6 Cal7 caracul-like 7	Hair, curly coat	KRT71 (presumed)
009692*	Lama2	Lama2dy-8J dystrophia muscularis 8 Jackson	neuromuscular	LAMA2 Muscular dystrophy, congenital merosin-deficient Muscular dystrophy, congenital, due to partial LAMA2 deficiency
008581	Large	Largemyd-3J myodystrophy 3 Jackson	craniofacial, neuromuscular, eye	LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
013716	Lhfpl2	Lhfpl2^vgimvaginal imperforation &	reproductive	LHFPL2
005638	Lhfpl5	Lhfpl5hscy-2J hurry scurry 2 Jackson	hearing, vestibular, behavior	LHFPL5 Deafness, autosomal recessive 67
001934	Lmna	LmnaDhe disheveled hair and ear	craniofacial, small ears, sparse coat, model of human laminopathies	LMNA Cardiomyopathy, dilated, 1A Charcot-Marie-Tooth disease, type 2B1 Emery-Dreifuss muscular dystrophy 2, AD Emery-Dreifuss muscular dystrophy 3, AR Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria Lipodystrophy, familial partial, 2 Malouf syndrome Mandibuloacral dysplasia Muscular dystrophy, congenital Muscular dystrophy, limb-girdle, type 1B Restrictive dermopathy, lethal
000636 001447* 001525* 002624 004202 005619* 007786*	Lmx1a	Lmx1adr-J LIM homeobox transcription factor 1 alpha; dreher Jackson Lmx1adr-3J LIM homeobox transcription factor 1 alpha; dreher 3 Jackson Lmx1adr-4J LIM homeobox transcription factor 1 alpha; dreher 4 Jackson Lmx1adr-6J LIM homeobox transcription factor 1 alpha; dreher 6 Jackson Lmx1adr-8J LIM homeobox transcription factor 1 alpha; dreher 8 Jackson Lmx1adr-10J dreher 10 Jackson Lmx1a^dr-11J dreher 11 Jackson	circling/hearing loss/ head toss	LMX1A
004423 010968	Lrp4	Lrp4mdig malformed digits Lrp4mdig-2J malformed digits 2 Jackson	craniofacial, teeth, skeleton, digits, tail	LRP4 Cenani-Lenz syndactyly syndrome; Sclerosteosis 2
006126*	Lyst	Lystbg-16J beige 16 Jackson	coat color	LYST Chediak-Higashi syndrome
012874	Map3k11	Map3k11m1J mutation 1 Jackson	integument, teeth	MAP3K11
005226	Mbp	Mbpshi-J shiverer Jackson	neurological	MBP
007710	Mmp14	Mmp14sabe	craniofacial, small body, shortened lifespan	MMP14
010494	Mpz	Mpzttrr totterer	neuromuscular	MPZ Charcot-Marie-Tooth disease, dominant intermediate 3 Charcot-Marie-Tooth disease, type 1B Charcot-Marie-Tooth disease, type 2I Charcot-Marie-Tooth disease, type 2J Dejerine-Sottas disease Neuropahy, congenital hypomyelinating Roussy-Levy syndrome
014104 016100*	Myo5a	Myo5ad-l32J dilute lethal 32 Jackson Myo5ad-l33J dilute lethal 33 Jackson	pigmentation, neurological	MYO5A Griscelli syndrome, type 1
006124 008456*	Myo6	Myo6sv-2J Snell's waltzer 2 Jackson Myo6sv-4J Snell's waltzer 4 Jackson	circling/head bobbing/ deafness; neurological/behavioral: anomalies in motor capabilities, coordination, and movement	MYO6 Deafness, autosomal dominant 22 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Deafness, autosomal recessive 37
022311	Myo7a	Myo7ash1-13J shaker 1, 13 Jackson	neurological	MYO7ADeafness, autosomal dominant 11 Deafmess. autosomal recessive 2 Usher syndrome, type 1B
024583	Myo10	Myo10m1J mutation 1 Jackson	pigmentation, integument, vision, limbs/digits	MYO10
005218*	Myo15	Myo15sh2-3J shaker 2 3 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement; deafness/ head bobbing	MYO15A Deafness, autosomal recessive 3
001035	Napa	Napahyh hydrocephaly with hop gait		NAPA
005330	Notch3	Notch3^hpbk humpback	skeletal, neuromuscular	NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
000061 003483 006228 005014 Pending	Nox3	Nox3het head tilt Nox3het-2J head tilt 2 Jackson Nox3het-3J head tilt 3 Jackson Nox3het-4J head tilt 4 Jackson Nox3het-5J head tilt 5 Jackson	behavior, hearing, vestibular	NOX3
003961	Noxo1	Noxo1hslt head slant	balance deficit	NOXO1
004521	Nppc	Nppclbab long bone abnormality	size, skeletal, limbs	NPPC
004200 013252	Npr2	Npr2cn-2J achondroplasia 2 Jackson Npr2cn-3J achondroplasia 3 Jackson	skeletal defects, body size, limbs	NPR2 Acromesomelic dysplasia, Maroteaux type
008188 008254*	Npr3	Npr3lgj-3J longjohn 3 Jackson Npr3lgj-4J longjohn 4 Jackson	skeletal/limbs	NPR3 Hypertension, salt-resistant
	Oca2	Oca2^p-18J pink-eyed dilution 18 Jackson	pigmentation	OCA2 Albinism, brown oculocutaneous Albinism, oculocutaneous, type II (Oculocutaneous albinism, type II, modifier of)
006128	Otof	Otofdeaf5Jcs deaf 5 John C. Schimenti	Hearing, vestibular, behavior	OTOF Auditory neuropathy, autosomal recessive, 1 Deafness, autosomal recessive 9
000531	Otx1	Otx1jv Jackson waltzer	circling, head bobbing	OTX1
012853*	Pax3 (unproven)	Splchl2 Splotch-like2	color spotting and tail	PAX3 (presumed) Craniofacial-deafness-hand syndrome Rhabdomyosarcoma 2, alveolar Waardenburg syndrome, type 1 Waardenburg syndrome, type 3
004622*	Pcdh15	Pcdh15av-jfb Ames waltzer James F Battey	circling,head-bobbing, deafness	PCDH15 Usher syndrome, type 1D/F digenic; Usher syndrome, type 1F; Deafness, autosomal recessive 23
003678	Pde6c	Pde6ccpfl1 cone photoreceptor function loss 1	vision/eye, nervous system	PDE6C Cone dystrophy 4
004235 011079	Pfas	PfasSofa short face PfasSofa-2J short face 2 Jackson	craniofacial	PFAS
000528 003950	Phex	PhexHyp Hypophosphatemia PhexHyp-2J Hypophosphatemia 2 Jackson	craniofacial, growth/ size, limbs/tail/skeleton, hearing/vestibular	PHEX Hypophosphatemic rickets, X-linked dominant
012624	Pld4	Pld4^thss thin hair with small size	hair and body size
021550	Pmp22	Pmp22Tr-2J trembler 2 Jackson	neurological	PMP22 Charcot-Marie-Tooth disease Dejerine-Sottas disease Inflammatory demyelinating Neuropathy Recurrent neuropathy with pressure palsies Roussy-Levy syndrome
007782	Pofut1	Pofut1cax compact axial skeleton	skeleton, growth/size, limbs/digits/tail	POFUT1
004406	Pou3f4	Pou3f4del-J Pou3f4 deletion Jackson	behavior/neurological/ hearing/vestibular/ ear phenotype	POUF3F4 Deafness, X-linked 2
007971	Ppp1r13l	Ppp1r13lwa3-J waved 3 Jackson	Hair and eye abnormalities and congestive heart failure	PPP1R13L
008568 026195	Prkra	Prkralear little ears Prkralear-3J little ears 3 Jackson	smaller ear pinna and smaller overall body size craniofacial, hearing, fertility	PRKRA Dystonia 16
005089	Qk	Qkqk-2J quaking 2 Jackson	Neurological	QKI
004684 005565	Rab38 (unproven)	chtl chocolate-like chtl-2J chocolate-like 2 Jackson	coat color	RAB38 (presumed)
000729	Rd3	Rd3rd3 retinal degeneration 3	vision/eye, nervous system	RD3 Leber congenital amaurosis 12
012856	Relb	Relbshep spontaneous hepatitis	metabolic, body size, immunologic	RELB
005250 005562* 007892* 008764*	Reln	Relnrl-4J reeler 4 Jackson Relnrl-5J reeler 5 Jackson Relnrl-7J reeler 7 Jackson Relnrl-8J reeler 8 Jackson	Size, neurological	RELN Lissencephaly 2 (Norman-Roberts type)
005544	Robo3	Robo3m1J mutation 1 Jackson	neurological, ataxia	ROBO3 Gaze palsy, horizontal, with progressive scoliosis
004073*	Scn8a	Scn8amed-jo2J jolting 2 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement	SCN8A Cognitive impairment with or without cerebellar ataxia
006446	Sh3pxd2b	Sh3pxd2bnee nose, eyes, ear	craniofacial, size, vision/eye, skeletal	SH3PXD2B Frank-ter Haar syndrome
003777	Sil1	Sil1wz woozy	mortality/aging, behavior, nervous system	SIL1 Marinesco-Sjogren syndrome
004683	Slc12a6	Slc12a6 gaxp giant axonopathy	neuromuscular	SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy
006816	Slc26a4	Slc26a4pdsm Pendred Syndrome model	neurological/behavioral: anomalies in motor capabilities, coordination, and movement; deafness/head bobbing	SLC26A4 Enlarged vestibular aqueduct Pendred syndrome
008544 019114	Slc45a2	Slc45a2uw-6J underwhite 6 Jackson Slc45a2uw-7J underwhite 7 Jackson	coat color	SLC45A2 Oculocutaneous albinism, type IV; (Skin/hair/eye pigmentation 5, black/nonblack hair); (Skin/hair/eye pigmentation 5, dark/fair skin); (Skin/hair/eye pigmentation 5, dark/light eyes);
005962	Slc45a2 (unproven)	uwl underwhite-like
000648	Soat1	Soat1ald adrenocortical lipid depletion	integument	SOAT1
005717	Sostdc1	Sostdc1shk sharkey	teeth and hearing	SOSTDC1
012857	Sox10	Sox10M2J mutation 1 Jackson	pigmentation	SOX10 PCWH syndrome Waardenburg syndrome, type 2E, with or without neurologic involvement Waardenburg syndrome, type 4C
000450 000446 007875	Spna1	Spna1sph spherocytosis Spna1sph-ha spherocytosis hemolytic anemia Spna1sph-3J spherocytosis 3 Jackson	mortality/aging, hematopoeitic, cardiovascular, immune renal/urinary, liver/biliary	SPTA1 Elliptocytosis-2 Pyropoikilocytosis Spherocytosis, type 3
008521* 008522*	Spnb4	Spnb4qv-10J quivering 10 Jackson Spnb4qv-11J quivering 11 Jackson	neurological	SPTBN4
018072	T	T 11J brachyury 11 Jackson	skeletal	T Neural tube defects
021221	Tl5	Tl5 brachyury-like 5	skeletal
003148	Tdo2	Tdo2^chky chick yellow	pigmentation, eye defect	TDO2
008044	Tmem67 (among other genes)	bpck bilateral polycystic kidney deletion region (multigenic mutation)	renal/urinary, nervous system, mortality/aging, endocrine/exocrine gland	TMEM67 COACH syndrome Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 (Bardet-Biedl syndrome 14, modfier of)
014103	Tmem79	Tmem79m1J mutation 1 Jackson	hair
008834	Tmie	Tmiesr-2J spinner 2 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement; deafness/circling	TMIE Deafness, autosomal recessive 6
006013 007852 or 023018		Tpotee teeny Tpotee-2J teeny 2 Jackson	endocrine, size, hearing	TPO Thyroid dyshormonogenesis 2A
012876	Tpp1	Tpp1m1J mutation 1 Jackson	neuromuscular	TPP1 type 2 neuronal ceroid lipofuscinosis
003612	Trak1	Trak1hyrt hypertonic	behavior	TRAK1
008832 025735	Tshr	Tshrhyt-2J hypothyroid 2 Jackson Tshrhyt-3J hypothyroid 3 Jackson	growth/size, metabolism, sterility, hearing	TSHR congenital nongoitrous hypothyroidism type 1
013110	Uchl1	Uchl1gad-2J gracile axonal dystrophy 2 Jackson	neuromuscular	UCHL1 (Parkinson disease 5, susceptibility to)
001607	Unc5c	Unc5crcm rostral cerebellar malformation	nervous system, behavior, cellular, growth/size	UNC5C
004771 004768 006104	Ush1c	Ush1cdfcr deaf circler Ush1cdfcr-2J deaf circler 2 Jackson Ush1cdfcr-3J deaf circler 3 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement; deafness/circling	USH1C Deafness, autosomal recessive 18 Usher syndrome, type 1C
006111	Ush1g	Ush1gjs-2J Jackson shaker 2 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement; deafness/head bobbing	USH1G Usher syndrome, type 1G
003095	Vac14	Vac14ingls infantile gliossis	behavior, nervous system, growth/size, pigmentation, integument, mortality	VAC14
004626	Vamp1	Vamp1lew lethal wasting	failure to thrive	VAMP1
016098 018166	Wnt7a	Wnt7apx-J postaxial hemimelia Jackson Wnt7apx-2J postaxial hemimelia 2 Jackson	skeletal deformities of the digits and forelimbs, sterility, epidermal bulges	WNT7A Fuhrmann syndrome
017748	Xlhl	Xlhl X-linked hair loss	integument
005327 022138	Zfp191	Zfp191hmcns hypomyelinated central nervous system Zfp191hmcns-2J hypomyelinated central nervous system 2 Jackson	mortality/aging, behavior nervous system	ZNF24
004780 008657 014084	Unknown	agil agitans-like agil2J agitans-like 2 Jackson agil3J agitans-like 3 Jackson	neurological
021220	Unknown	ahlg abnormal hind leg	neurological, growth/size, skeletal
000624	Unknown	anx	neurological, behavioral
013782	Unknown	aphl atypical hair loss	skin and hair
005349	Unknown	awag ages with abnormal gait	neurological/behavioral: anomalies in motor capabilities, coordination, and movement
008129	Unknown	Bhrdbad hair day	skin and hair
006157	Unknown	baw black and white	coat color
003818	Unknown	bdd bulging disc disease	skeletal
024009	Unknown	blnt blunt tail	development, tail
006448	Unknown	Bolt lightning bolt tail	skeletal
005136	Unknown	ctl curly tail-like	skeletal
003826	Unknown	cub curly bare	hair
003398	Unknown	dal dark-like	coat color, size, skeletal, metabolic
010822	Unknown	dde disproportionate dwarf and eye defect	skeletal and eye
006274	Unknown	Dfb deaf ballerina	neurological, behavioral
006058	Unknown	Dkd darkened dorsal	skin and hair
012654	Unknown	Dsht dominant short tail	skeletal
013084	Unknown	Dts dominant tail short	skeletal
006429	Unknown	Dwh dispersed white hair	coat color
003485	Unknown	frg froggy	body size and skull shape
003606	Unknown	frzl frizzy-like	hair
008296	Unknown	fsq flying squirrel	neurological
012596	Unknown	Hdlk Hypodactyly like	limbs, digits, renal, urinary system
007947	Unknown	He helicopter Ears	craniofacial, skeletal
006948	Unknown	hstp high stepper	neuorlogical/eye
004070	Unknown	hml hypoplasia of the membranous labyrinth	hearing/vestibular/ear, behavior/neurological
003561 004689*	Unknown	Hxlhemimelic extra toes-likeHxl2hemimelic extra toes-like 2	skeleton, limbs, toes
003922	Unknown	jgl jagged tail-like	skeletal, tail, reproductive tract abnormalities
013121	Unknown	Lootl loop tail-like	skeletal
004502	Unknown	Lxl2 luxate-like 2	limbs
003628	Unknown	Mcub modifier of curly bare	hair
004806	Unknown	Mfs mutant fur is striped	skin and hair
010637	Unknown	oar oarleg	limb
008548	Unknown	oda overall diluted appearance	pigmentation
013715	Unknown	psds1l psoriasis-like skin disease severity1-like	skin and hair
012875	Unknown	qvyr	neurological
005574* 006107	Unknown	rslk recessive spotting-like rslk2J recessive spotting-like 2 Jackson	coat color, spotting
005362	Unknown	rul ruffled	hair
016196	Unknown	Scs semi-dominant compacted skeleton	skeleton
006247	Unknown	sevr severe runting	size, skeletal
005482	Unknown	Shar shiny and rough	skin and hair
005133* 005132*	Unknown	shmy2J shimmy 2 Jackson shmy3J shimmy 3 Jackson	neurological
008753	Unknown	shsn short snout	craniofacial, eyes
009156	Unknown	skp skimpy	gait, size, fertility, lethal
006057	Unknown	sky severe kyphosis	skeleton, limbs
006603	Unknown	slck slick hair	hair and skin
016887	Unknown	smrl small roller	neurological, size
004476	Unknown	snol snubnose-like	craniofacial, skeletal, tail
	Unknown	ssl small swaying lethal	Neurological
004507	Unknown	stn stunted	craniofacial, coat color
005415	Unknown	stpm short term perm	hair
006246	Unknown	sunk sunken	skeletal
006935	Unknown	thnh thin hair	skin and hair
003400	Unknown	Thpr tooth hopper	size, neurological, development
008425*	Unknown	Trl trembler-like	Neurological
005323	Unknown	tnyw tiny wasting	size, neurological
018138	Unknown	Trms	neurological, wasting, ataxia
006425	Unknown	Tsed twisted legs and extra digits	skeletal
004667 012306	Unknown	tth tremor with tilted head tth2J tremor with tilted head 2 Jackson	neurological/behavioral: anomalies in motor capabilities, coordination, and movement
004416	Unknown	twit twitter	neurological, survival
023062	Unknown	usl unsteady small lethal	neurological, size, developmental
006450	Unknown	Vss variable spot and size	color and size
008048*	Unknown	wa1l waved 1-like	skin and hair
012625	Unknown	wblo wobbly locomotion	neurological
005624	Unknown	whe white eyes	eye
004620	Unknown	Whll wheels-like	moderate circler, mild hearing impairment
003397	Unknown	Wtgr wavy tiger	Skin and hair
005274	Unknown	Xls X-linked stripe	coat color

asj

Lhfpl5^hscy-2Jhurry scurry 2 Jackson

Cardiomyopathy, dilated, 1A Charcot-Marie-Tooth disease, type 2B1 Emery-Dreifuss muscular dystrophy 2, AD Emery-Dreifuss muscular dystrophy 3, AR Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria Lipodystrophy, familial partial, 2 Malouf syndrome Mandibuloacral dysplasia Muscular dystrophy, congenital Muscular dystrophy, limb-girdle, type 1B Restrictive dermopathy, lethal

Hypophosphatemic rickets, X-linked dominant

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Mouse Mutant Resource: Available mouse models