Phenotypes associated with this allele

• Allele Symbol: Pdzd7^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4433578
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdzd7^tm1a(EUCOMM)Wtsi/Pdzd7^tm1a(EUCOMM)Wtsi	involves: C57BL/6J * C57BL/6N	MGI:5581838

Genotype
MGI:5581838

hm1

• Allelic Composition: Pdzd7^{tm1a(EUCOMM)Wtsi}/Pdzd7^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:209073 )

N • mice exhibit normal vestibular function

abnormal cochlear outer hair cell morphology ( J:209073 )

• at P4 and 1 month

abnormal outer hair cell stereociliary bundle morphology ( J:209073 )

• at P4 and in adulthood

• hair bundles are bent at their base and tilting toward the shortest row of sterocilia

• abnormal length and thickness

abnormal outer hair cell kinocilium location or orientation ( J:209073 )

• mislocalized kinocilia

decreased outer hair cell stereocilia number ( J:209073 )

• at P4

abnormal cochlear outer hair cell physiology ( J:209073 )

• outer hair cells exhibit mechanoelectrical transduction with decreased peak current amplitude and broadened operating range compared with wild-type mice

decreased cochlear microphonics ( J:209073 )

• at 3 weeks

abnormal hair cell mechanoelectric transduction ( J:209073 )

• outer hair cells exhibit mechanoelectrical transduction with decreased peak current amplitude and broadened operating range compared with wild-type mice

• however, inner hair cell exhibit normal current amplitudes

increased or absent threshold for auditory brainstem response ( J:209073 )

• severely elevated threshold at 3 to 4 weeks

abnormal distortion product otoacoustic emission ( J:209073 )

• severely elevated threshold at 3 to 4 weeks

deafness ( J:209073 )

• profound at 3 to 4 weeks

nervous system

abnormal cochlear outer hair cell morphology ( J:209073 )

• at P4 and 1 month

abnormal outer hair cell stereociliary bundle morphology ( J:209073 )

• at P4 and in adulthood

• hair bundles are bent at their base and tilting toward the shortest row of sterocilia

• abnormal length and thickness

abnormal outer hair cell kinocilium location or orientation ( J:209073 )

• mislocalized kinocilia

decreased outer hair cell stereocilia number ( J:209073 )

• at P4

abnormal cochlear outer hair cell physiology ( J:209073 )

• outer hair cells exhibit mechanoelectrical transduction with decreased peak current amplitude and broadened operating range compared with wild-type mice

decreased cochlear microphonics ( J:209073 )

• at 3 weeks

abnormal hair cell mechanoelectric transduction ( J:209073 )

• outer hair cells exhibit mechanoelectrical transduction with decreased peak current amplitude and broadened operating range compared with wild-type mice

• however, inner hair cell exhibit normal current amplitudes

vision/eye

vision/eye phenotype ( J:209073 )

N • at 1 month, mice exhibit normal scotopic and photopic electroretinogram responses

N • older mice could not be analyzed for vision function due to the presence of Crb1^rd8 in the strain background

cellular

abnormal outer hair cell kinocilium location or orientation ( J:209073 )

• mislocalized kinocilia