Phenotypes Associated with This Genotype

Genotype
MGI:3702269

• Allelic Composition: Ush2a^tm1Tili/Ush2a^tm1Tili
• Genetic Background: involves: 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Retinal degeneration in the Ush2a^tm1Tili/Ush2a^tm1Tili mouse

vision/eye

abnormal retina photoreceptor layer morphology ( J:118927 )

• a gradual thinning of the photoreceptor outer layer is observed with age

abnormal retina photoreceptor morphology ( J:118927 )

• up to 10 months of age, photoreceptor morphology is normal, but photoreceptors are under stress and are in a pre-degenerating state

short photoreceptor inner segment ( J:118927 )

• shortening of inner/outer segments is seen with age

short photoreceptor outer segment ( J:118927 )

• shortening of inner/outer segments is seen with age

• at 20 months of age, outer segments become very short and disorganized

retina photoreceptor degeneration ( J:118927 )

• as mice age, signs of photoreceptor degeneration are observed

• at 20 months of age, >50% of photoreceptors are lost

retina cone cell degeneration ( J:118927 )

• cone photoreceptors undergo degeneration by 20 months of age

abnormal eye electrophysiology ( J:118927 )

• by 20 months of age, a- and b-waves are reduced by >60% compared to wild-type controls

nervous system

decreased cochlear outer hair cell number ( J:118927 )

• widespread loss of outer hair cells in the basal turn is observed

abnormal retina photoreceptor morphology ( J:118927 )

• up to 10 months of age, photoreceptor morphology is normal, but photoreceptors are under stress and are in a pre-degenerating state

short photoreceptor inner segment ( J:118927 )

• shortening of inner/outer segments is seen with age

short photoreceptor outer segment ( J:118927 )

• shortening of inner/outer segments is seen with age

• at 20 months of age, outer segments become very short and disorganized

retina photoreceptor degeneration ( J:118927 )

• as mice age, signs of photoreceptor degeneration are observed

• at 20 months of age, >50% of photoreceptors are lost

retina cone cell degeneration ( J:118927 )

• cone photoreceptors undergo degeneration by 20 months of age

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:118927 )

• widespread loss of outer hair cells in the basal turn is observed

abnormal distortion product otoacoustic emission ( J:118927 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 2A		DOID:0110838	OMIM:276901	J:118927