Phenotypes associated with this allele

• Allele Symbol: Pcdh15^av-5J
• Allele Name: Ames Waltzer 5 Jackson
• Allele ID: MGI:2183469
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdh15^av-5J/Pcdh15^av-5J	C57BL/6J-Pcdh15^av-5J/J	MGI:2183471

Genotype
MGI:2183471

hm1

• Allelic Composition: Pcdh15^av-5J/Pcdh15^av-5J
• Genetic Background: C57BL/6J-Pcdh15^av-5J/J

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

behavior/neurological

impaired righting response ( J:97048 )

absent startle reflex ( J:97048 , J:112247 )

• no startle response (J:97048)

impaired swimming ( J:97048 )

• failed a swimming test at 20 days of age

• disoriented and failed to come to the surface when placed in the water

head tilt ( J:78134 )

• discernable by weaning age

head tossing ( J:78134 , J:112247 )

• discernable by weaning age (J:78134)

hyperactivity ( J:112247 )

circling ( J:97048 , J:112247 )

• seen as early as 10 days of age and persists through adulthood (J:97048)

cellular

abnormal vestibular hair cell kinocilium morphology ( J:112247 )

• by E17.5 the vestibular sensory epithelium has disorganized stereo cilia bundles and misplaced kinocilia

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 at 3 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.

decreased a-wave amplitude ( J:112247 )

decreased b-wave amplitude ( J:112247 )

abnormal eye electrophysiology ( J:112247 )

abnormal rod electrophysiology ( J:112247 )

• scotopic ERG amplitudes are decreased by 40% compared to heterozygous controls at all light intensities

hearing/vestibular/ear

abnormal vestibular hair cell kinocilium morphology ( J:112247 )

• by E17.5 the vestibular sensory epithelium has disorganized stereo cilia bundles and misplaced kinocilia

abnormal cochlear sensory epithelium morphology ( J:97048 )

• total collapse of the cochlear neuroepithelium by age 30 days

abnormal organ of Corti morphology ( J:97048 )

abnormal cochlear hair cell stereociliary bundle morphology ( J:112247 )

• by 5 days of age the stereocilia are disorganized in the apical, middle, and basal turns of the organ of Corti

abnormal inner hair cell stereociliary bundle morphology ( J:97048 )

• inner hair cell stereocilia arrangement disrupted at day 2 - 10 but less severely than outer hair cell stereocilia

abnormal orientation of cochlear hair cell stereociliary bundles ( J:112247 )

• disorganized stereocilia bundles as early as E17.5

abnormal outer hair cell stereociliary bundle morphology ( J:97048 )

• normal "V" or "W" pattern of outer hair cell stereocilia severely disrupted by day 2 to day 10 of life

cochlear hair cell degeneration ( J:78134 )

• loss of hair cells was noted

cochlear outer hair cell degeneration ( J:97048 )

• some loss of outer hair cells by 20 days of age

organ of Corti degeneration ( J:97048 )

• degenerative changes in the organ of Corti and in the inner spiral sulcus by age 30 days

increased or absent threshold for auditory brainstem response ( J:97048 )

• no auditory brainstem response at any intensity or frequency of stimulus

deafness ( J:78134 , J:112247 )

• mice are deaf by 14 weeks of age (J:78134)

growth/size/body

postnatal growth retardation ( J:97048 )

• size reduced by 2 weeks of age

nervous system

abnormal vestibular hair cell kinocilium morphology ( J:112247 )

• by E17.5 the vestibular sensory epithelium has disorganized stereo cilia bundles and misplaced kinocilia

abnormal cochlear hair cell stereociliary bundle morphology ( J:112247 )

• by 5 days of age the stereocilia are disorganized in the apical, middle, and basal turns of the organ of Corti

abnormal inner hair cell stereociliary bundle morphology ( J:97048 )

• inner hair cell stereocilia arrangement disrupted at day 2 - 10 but less severely than outer hair cell stereocilia

abnormal orientation of cochlear hair cell stereociliary bundles ( J:112247 )

• disorganized stereocilia bundles as early as E17.5

abnormal outer hair cell stereociliary bundle morphology ( J:97048 )

• normal "V" or "W" pattern of outer hair cell stereocilia severely disrupted by day 2 to day 10 of life

cochlear hair cell degeneration ( J:78134 )

• loss of hair cells was noted

cochlear outer hair cell degeneration ( J:97048 )

• some loss of outer hair cells by 20 days of age

cochlear ganglion degeneration ( J:78134 )

• loss of neurons in the spiral (cochlear) ganglia