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Phenotypes Associated with This Genotype
Genotype
MGI:3702269
Allelic
Composition
Ush2atm1Tili/Ush2atm1Tili
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ush2atm1Tili mutation (0 available); any Ush2a mutation (111 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Retinal degeneration in the Ush2atm1Tili/Ush2atm1Tili mouse

vision/eye
• a gradual thinning of the photoreceptor outer layer is observed with age
• up to 10 months of age, photoreceptor morphology is normal, but photoreceptors are under stress and are in a pre-degenerating state
• shortening of inner/outer segments is seen with age
• shortening of inner/outer segments is seen with age
• at 20 months of age, outer segments become very short and disorganized
• as mice age, signs of photoreceptor degeneration are observed
• at 20 months of age, >50% of photoreceptors are lost
• cone photoreceptors undergo degeneration by 20 months of age
• by 20 months of age, a- and b-waves are reduced by >60% compared to wild-type controls

nervous system
• widespread loss of outer hair cells in the basal turn is observed
• up to 10 months of age, photoreceptor morphology is normal, but photoreceptors are under stress and are in a pre-degenerating state
• shortening of inner/outer segments is seen with age
• shortening of inner/outer segments is seen with age
• at 20 months of age, outer segments become very short and disorganized
• as mice age, signs of photoreceptor degeneration are observed
• at 20 months of age, >50% of photoreceptors are lost
• cone photoreceptors undergo degeneration by 20 months of age

hearing/vestibular/ear
• widespread loss of outer hair cells in the basal turn is observed
• at 4 months of age, mice show normal cochlear function at low frequency but an elevated threshold at higher frequencies; there was no progression when tested at 7 months of age

Mouse Models of Human Disease
OMIM ID Ref(s)
Usher Syndrome, Type IIA; USH2A 276901 J:118927


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory