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Our screening procedure starts with a primary search for gross eye abnormalities. Mice with a suspected abnormality are followed up with a secondary examination.
I. We visually inspect for gross eye abnormalities by examining the eyelids, globe, cornea and iris.
II. Using a Nikon biomicroscope (slit lamp) examination, we check the cornea for clarity, size (bupthalmos vs. microcornea), surface texture and vascularization. The iris is checked for pupil size, constriction, reflected luminescence and synechia. The eye is then dilated with 1% atropine, and the lens is checked for cataract.
III. We use an indirect ophthalmoscope to examine the fundus for signs of retinal degeneration, such as retinal vessel constriction or retinal pigment epithelial disturbance, or for other problems, such as drusen or deposits or optic nervehead abnormalities.
IV. We use electroretinography (ERG) to test for retinal function loss.
Mice with a suspected abnormality are followed up by examining more mice of the same strain and genetically related strains. In addition, this second-level screen includes:
(1) electroretinography for suspected retinal problems
(2) histological check of all eye tissues
(3) comparison of mice at different ages to determine age of onset of the condition
(4) comparison of the new mutant's clinical features to those in established mutant eye stocks.
Mouse models of human hereditary eye diseases for which chromosomal locations have not been established:
Strain or new mutant # | Phenotype Description |
|---|---|
ABJ/Le | Missing areas of RPE, retinal detachments |
Notch1 | Some mice show no retinal blood vessels, bad ERG |
Mus caroli | Progressive cone function loss and age onset loss of areas of RPE and ONL |
ZELENDE | Optic nerve coloboma |
nm3360 | New allele of rd8 |
nm3265 | Retinal coloboma |
nm 3343 | Thin retinal vessels, bad ERG, ONL = 0, areas of missing RPE |
nm3345 | Iris stromal hypoplasia and holes, bad ERG, ONL=6 |
Cd | Crooked; small eyes, histology shows no ciliary body, abnormal retinal layers |
nm2253 | New mutation causing focal retinal spots, multigenic |
nm 2708 | Mice have a slow retinal degeneration starting at 9 months of age |
Nm2423 | Mice have missing retinal blood vessels; dilated iris; retinal pigment loss; ganglion, inner and outer nuclear cell loss |
B6.C-H2bm-2/By | Cataract and retinal spots, allele of rd8 |
C57BL/6Ros-Dmdmdx-4cv | X-linked muscular dystrophy, male has spots and mottled retina |
CXBK | Retinal degeneration: by 9 months mice have pigment deposits, reduction of photoreceptor layer and the ERG amplitude is half normal in size |
P. maniculatus | Deer mouse strain at The Jackson Laboratory has been found to have a slow retinal degeneration and cataract |
Krd | Kidney and retinal defects; tonic pupil, retinal neovascularization, under study for a modifying gene |
Bst | Belly spot and tail; multiple abnormalities: serous retinal detachments, tonic pupils, white lesions in retina, age onset detachments |
RBA/DnJ | Scattered yellow dots in the retina |
Strain or new mutant # | Phenotype Description |
|---|---|
B6,129-Ggta1tm1ajb1 | Recessive cataract |
nm2541 | New mutation causing cataract and iris coloboma, may be allelic to or same mutation as nm2520 |
EMORY and BUB/BnJ | Retinal and iris coloboma in addition to cataracts at 3 months, linkage analysis in progress |
RIII/DmMob | Cataract starts at 6 months old, linkage analysis in progress |
B6,129-Rab3a tm1Sud | Posterior suture cataract at 4 months old |
STOCK Ds/+ | Hazy cataracts |
lop17 | Subcapsular cataract at 8 months of age |
Lop22 | Cataract found in CSJLF1 |
B6C3H spfash/Y | A sex-linked cataract in sparse fur ashen mutant mouse |
dwg/dwg | Mature cataract in both eyes of mutant mouse at weaning. |
CWD/Le | Cataract at weaning, allele testing in progress |
RBF/Dn | Recessive cataract, variable expression |
Line 77-2, C-4 | Cataract expression depends on background |
SWXL-15/Ty | Hazy cataract |
Strain or new mutant # | Phenotype Description |
|---|---|
CALB/Rk | Early enlargement of optic cup or coloboma. Some mice have peripapillary staphylomas,and bupthalmos |
si/si | Silver; early enlargement of optic cup or coloboma |
AKXD-28 | Ganglion cell loss and optic nerve cupping |
Strain or new mutant # | Phenotype Description |
|---|---|
Nm2589 | Found in a (BALB/cxSJL)F1, retinal and iris coloboma |
nm1839 | Model for Axenfeld's syndrome, anterior segment dysgenesis, bupthalmos |
nm3361 | Age onset iris swellings and atrophy |
nm3362 | Dominant iris coloboma |
AKXD-23 | All mice in this strain develop early blepharitis, multigenic |
AKXD-3 | All mice in this strain develop early blepharitis, multigenic |
MOLD/Rk | Large iris holes at 28 months of age, linkage analysis in progress |
RBC/Dn | Pyogenic granuloma, only available from the freezer |