Mouse Genome Informatics
hm
    Ush2atm1Tili/Ush2atm1Tili
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Usher Syndrome, Type IIA; USH2A 276901 J:118927