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Phenotypes Associated with This Genotype
Genotype
MGI:5637298
Allelic
Composition
Cryba1tm1.1Dbsa/Cryba1tm1.1Dbsa
Tg(BEST1-cre)1Jdun/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cryba1tm1.1Dbsa mutation (0 available); any Cryba1 mutation (7 available)
Tg(BEST1-cre)1Jdun mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• decrease in type I lysosomes (a type of autophagic melano-lysosome)
• autophagy is decreased in the retinal pigment epithelium (RPE)
• lysosomal-mediated clearance is inhibited in the RPE
• autophagosomes accumulate in the RPE due to inhibition of the proteolytic degradation by the lysosomes
• endolysosomal pH is about 0.7 pH units higher in primary RPE cells than in wild-type cells
• lysosomal-mediated clearance is impaired in the retina

homeostasis/metabolism
• autophagy is decreased in the retinal pigment epithelium (RPE)

pigmentation
• 12 month old mice show retinal pigment epithelium degeneration, including loss of basal infoldings, prominent intracellular vacuoles, undigested melanosomes and photoreceptor outer segments, widening of adherens junctions, and an increase in cell death in the RPE (J:215531)
• the tightly connected monolayer of pigment cells with cuboidal morphology, well-defined cell junctions, apical microvilli, and basal infoldings is disrupted in aging mice (J:215838)
• abnormal lipid accumulation in the retinal pigment epithelium (J:215838)
• vacuole-like structures, some with undigested outer segments, and loss and truncation of basal infoldings, are seen in the RPE as early as 2 months of age (J:215838)
• by 9 months of age, large vacuoles containing partially degradative autophagic vacuoles are seen (J:215838)
• the retinal pigment epithelium shows areas of hypo- and hyper-pigmentation and scattered lesions by 4 months of age that increases with age
• increase in the number of melanosomes in the RPE

vision/eye
• 12 month old mice show retinal pigment epithelium degeneration, including loss of basal infoldings, prominent intracellular vacuoles, undigested melanosomes and photoreceptor outer segments, widening of adherens junctions, and an increase in cell death in the RPE (J:215531)
• the tightly connected monolayer of pigment cells with cuboidal morphology, well-defined cell junctions, apical microvilli, and basal infoldings is disrupted in aging mice (J:215838)
• abnormal lipid accumulation in the retinal pigment epithelium (J:215838)
• vacuole-like structures, some with undigested outer segments, and loss and truncation of basal infoldings, are seen in the RPE as early as 2 months of age (J:215838)
• by 9 months of age, large vacuoles containing partially degradative autophagic vacuoles are seen (J:215838)
• the retinal pigment epithelium shows areas of hypo- and hyper-pigmentation and scattered lesions by 4 months of age that increases with age
• increase in the number of melanosomes in the RPE
• mice slowly develop age-related macular degeneration-like pathology associated with inefficient lysosomal clearance
• at 7 months of age, mice show reductions in both scotopic a-wave and photopic b-wave amplitudes indicating both rod and cone photoreceptor dysfunction
• mice show a reduction in photopic b-wave amplitudes at the two highest stimulus intensities at 4 months of age, indicating cone photoreceptor dysfunction
• at 7 months of age, mice show reductions in both scotopic a-wave and photopic b-wave amplitudes indicating both rod and cone photoreceptor dysfunction

nervous system
• GFAP-expressing activated Muller cells are present in the retina, indicating reactive gliosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
age related macular degeneration 1 DOID:0110014 OMIM:603075
J:215531


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory