Our screening procedure starts with a primary search for gross eye abnormalities. Mice with a suspected abnormality are followed up with a secondary examination.

Our primary screening procedure includes:

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.

Our secondary screening procedure:

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:


Retinal Disorders

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

Cataract Models

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

Glaucoma Models

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

Other Eye Diseases

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