Phenotypes associated with this allele

• Allele Symbol: Pcdh15^av-J
• Allele Name: Ames waltzer Jackson
• Allele ID: MGI:1855958
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdh15^av-J/Pcdh15^av-J	B6.BKS-Pcdh15^av-J/J	MGI:3698730

Genotype
MGI:3698730

hm1

• Allelic Composition: Pcdh15^av-J/Pcdh15^av-J
• Genetic Background: B6.BKS-Pcdh15^av-J/J

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:106625 )

N • normal endocochlear potential

N • histochemistry of the organ of Corti shows the centrosomes in the normal position

N • cytocauds are not observed

abnormal cochlear hair cell morphology ( J:106625 )

• diminished amounts of actin in the stereocilla and cuticular plate, distorted shape of the outer perimeter of all hair cells

• inner hair cells more severely affected than outer hair cells

abnormal cochlear hair cell stereociliary bundle morphology ( J:106625 )

• at 16 days of age stereocilia bundles are disorganized and some are clumped together; the angle between the stereocilia and the reticular lamina is abnormal

• the luminal surface of Deiters cells has more microvilli than normal

abnormal inner hair cell stereociliary bundle morphology ( J:106625 )

• inner hair cell stereocilia at 16 days of age are disorganized and appear to be bent at a variety of angles

abnormal orientation of inner hair cell stereociliary bundles ( J:106625 )

short cochlear hair cell stereocilia ( J:106625 )

abnormal cochlear outer hair cell morphology ( J:106625 )

• at 16 days of age outer hair cell shape is normal, but the number of mitochondria is low and the nucleus is darker than normal with early signs of DNA clumping

cochlear hair cell degeneration ( J:106625 )

abnormal organ of Corti supporting cell morphology ( J:106625 )

• diminished actin in the supporting cells, particularly the pillar and Hensen cells

abnormal Hensen cell morphology ( J:106625 )

abnormal pillar cell morphology ( J:106625 )

increased or absent threshold for auditory brainstem response ( J:106625 )

• as early as 9 days of age there is no ABR response even at 20 kHz

absent linear vestibular evoked potential ( J:116914 )

• VESPs are absent at the maximum stimulus intensity used

behavior/neurological

impaired swimming ( J:106625 , J:116914 , J:148677 )

• 7 of 10 mice tested exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface (J:116914)

• 3 of 10 mice tested exhibit reduced swimming ability; mice can swim at or near the surface of the water, but do not maintain a horizontal body position (J:116914)

• 3 homozygotes were able to orient to the surface, but swam in pirouette fashion (J:148677)

circling ( J:106625 , J:116914 )

nervous system

abnormal cochlear hair cell morphology ( J:106625 )

• diminished amounts of actin in the stereocilla and cuticular plate, distorted shape of the outer perimeter of all hair cells

• inner hair cells more severely affected than outer hair cells

abnormal cochlear hair cell stereociliary bundle morphology ( J:106625 )

• at 16 days of age stereocilia bundles are disorganized and some are clumped together; the angle between the stereocilia and the reticular lamina is abnormal

• the luminal surface of Deiters cells has more microvilli than normal

abnormal inner hair cell stereociliary bundle morphology ( J:106625 )

• inner hair cell stereocilia at 16 days of age are disorganized and appear to be bent at a variety of angles

abnormal orientation of inner hair cell stereociliary bundles ( J:106625 )

short cochlear hair cell stereocilia ( J:106625 )

abnormal cochlear outer hair cell morphology ( J:106625 )

• at 16 days of age outer hair cell shape is normal, but the number of mitochondria is low and the nucleus is darker than normal with early signs of DNA clumping

cochlear hair cell degeneration ( J:106625 )