Phenotypes Associated with This Genotype

Genotype
MGI:3581028

• Allelic Composition: Cdh23^v-2J/Cdh23^v-2J
• Genetic Background: B6(V)-Cdh23^v-2J/J

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

hearing/vestibular/ear

abnormal ear morphology ( J:66698 )

abnormal cochlear hair cell inter-stereocilial links morphology ( J:135991 )

• lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal cochlear hair bundle tip links morphology ( J:135991 )

• apical links are not present in P5 mice

abnormal inner hair cell stereociliary bundle morphology ( J:66698 , J:135991 )

• at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape (J:66698)

• at P4, IHCs remain disorganized (J:66698)

• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles (J:135991)

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

abnormal inner hair cell kinocilium morphology ( J:135991 )

• kinocilia are often dissociated from the stereociliary clumps

abnormal orientation of cochlear hair cell stereociliary bundles ( J:135991 )

• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice

• the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice

abnormal cochlear outer hair cell morphology ( J:66698 )

• at E18.5, the outer hair cells (OHCs) appear immature

abnormal outer hair cell stereociliary bundle morphology ( J:66698 , J:135991 )

• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly (J:66698)

• at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern (J:66698)

• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

abnormal outer hair cell kinocilium morphology ( J:135991 )

• kinocilia are often dissociated from the stereociliary clumps

absent outer hair cell stereocilia ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal vestibular hair cell stereociliary bundle morphology ( J:66698 )

• at P4, stereocilia appear thick and are often fused and disorganized

abnormal ear physiology ( J:66698 )

increased or absent threshold for auditory brainstem response ( J:66698 )

• mice at 3-4 weeks of age do not return normal waveforms at a sound pressure level of 100 dB

absent linear vestibular evoked potential ( J:116914 )

• VESPs are absent at the maximum stimulus intensity used

behavior/neurological

abnormal reflex ( J:116914 )

• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior

impaired swimming ( J:116914 )

• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

circling ( J:116914 )

vision/eye

vision/eye phenotype ( J:109546 )

N • mice do not exhibit signs of retinal degeneration up to 12 months of age and the melanosomes of the retinal pigment epithelium (RPE) are properly localized

decreased a-wave implicit time ( J:109546 )

• electroretinography analysis of mutant retinas show no difference in amplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points

decreased b-wave implicit time ( J:109546 )

• electroretinography analysis of mutant retinas show no difference in amplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points

abnormal eye electrophysiology ( J:109546 )

nervous system

abnormal cochlear hair cell inter-stereocilial links morphology ( J:135991 )

• lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal cochlear hair bundle tip links morphology ( J:135991 )

• apical links are not present in P5 mice

abnormal inner hair cell stereociliary bundle morphology ( J:66698 , J:135991 )

• at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape (J:66698)

• at P4, IHCs remain disorganized (J:66698)

• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles (J:135991)

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

abnormal inner hair cell kinocilium morphology ( J:135991 )

• kinocilia are often dissociated from the stereociliary clumps

abnormal orientation of cochlear hair cell stereociliary bundles ( J:135991 )

• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice

• the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice

abnormal cochlear outer hair cell morphology ( J:66698 )

• at E18.5, the outer hair cells (OHCs) appear immature

abnormal outer hair cell stereociliary bundle morphology ( J:66698 , J:135991 )

• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly (J:66698)

• at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern (J:66698)

• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

abnormal outer hair cell kinocilium morphology ( J:135991 )

• kinocilia are often dissociated from the stereociliary clumps

absent outer hair cell stereocilia ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal vestibular hair cell stereociliary bundle morphology ( J:66698 )

• at P4, stereocilia appear thick and are often fused and disorganized

cellular

abnormal inner hair cell kinocilium morphology ( J:135991 )

• kinocilia are often dissociated from the stereociliary clumps

abnormal outer hair cell kinocilium morphology ( J:135991 )

• kinocilia are often dissociated from the stereociliary clumps

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1D		DOID:0110831	OMIM:601067	J:66698