Phenotypes associated with this allele

• Allele Symbol: Pcdh15^em1Zma
• Allele Name: endonuclease-mediated mutation 1, Zubair M Ahmed
• Allele ID: MGI:7564294
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdh15^em1Zma/Pcdh15^em1Zma	involves: C57BL/6J	MGI:7564541

Genotype
MGI:7564541

hm1

• Allelic Composition: Pcdh15^em1Zma/Pcdh15^em1Zma
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

areflexia ( J:342718 )

• peripheral vestibular areflexia

abnormal motor coordination/balance ( J:342718 )

• abnormal behavior in tail suspension test

head bobbing ( J:342718 )

hyperactivity ( J:342718 )

circling ( J:342718 )

• in open field test at age 2 months

hearing/vestibular/ear

cochlear hair cell degeneration ( J:342718 )

• at age P60

abnormal hair cell mechanoelectric transduction ( J:342718 )

• absent mechanoelectrical transduction in cochlear and vestibular hair cells at age P0

deafness ( J:342718 )

• no auditory-evoked brainstem responses (ABRs) at age P16

homeostasis/metabolism

abnormal homeostasis ( J:342718 )

• reduced retinoid levels in dark-adapted eyes

nervous system

cochlear hair cell degeneration ( J:342718 )

• at age P60

abnormal hair cell mechanoelectric transduction ( J:342718 )

• absent mechanoelectrical transduction in cochlear and vestibular hair cells at age P0

vision/eye

vision/eye phenotype ( J:342718 )

N • normal gross retina morphology at age 1-2 and 12-14 months

N • normal RPE morphology at age 1-2 months

thin retina outer nuclear layer ( J:342718 )

• at age 12-14 months

• normal at age 1-2 months

abnormal cone electrophysiology ( J:342718 )

• reduced EGR a- and b-wave amplitude at age 1 thru 14 months

• normal wave shape at age 1 thru 14 months

abnormal rod electrophysiology ( J:342718 )

• reduced EGR a- and b-wave amplitude at age 1 thru 14 months

• normal wave shape at age 1 thru 14 months