Phenotypes Associated with This Genotype

Genotype
MGI:3575018

• Allelic Composition: Pcdh15^av-Jfb/Pcdh15^av-Jfb
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

behavior/neurological

impaired swimming ( J:81272 )

• fail swim test by rolling and sinking

head tossing ( J:81272 )

circling ( J:81272 )

• the circling phenotype is discernable by weaning age

vision/eye

abnormal electroretinogram waveform feature ( J:112247 )

♀ • The scotopic and photopic ERG have normal shape and timing of the waveforms and the b to a wave ratio is normal at each intensity, but the amplitudes of the a-wave and b-wave are reduced relative to heterozygotes at 5 weeks and 3 months. However, there is no indication of retinal degeneration even at 6 months of age, with histology finding normal width and cell number of the outer nuclear layer and normal length of the rod photoreceptor outer segment.

abnormal eye electrophysiology ( J:112247 )

♀ • Scotopic and photopic ERGs show reduced amplitudes although waveform shape and timing are normal

abnormal cone electrophysiology ( J:112247 )

abnormal rod electrophysiology ( J:112247 )

♀

hearing/vestibular/ear

deafness ( J:81272 )

• mice are deaf by 4 weeks of age as confirmed by ABR analysis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1F		DOID:0110832	OMIM:602083	J:84779