Phenotypes Associated with This Genotype

Genotype
MGI:3709038

• Allelic Composition: Cdh23^sals/Cdh23^sals
• Genetic Background: involves: C57BL/6J

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:147149 )

N • vestibular hair cells maintain tip links and no abnormal degeneration of the vestibule is detected

abnormal cochlear hair cell morphology ( J:147149 )

abnormal cochlear hair bundle tip links morphology ( J:147149 )

• while tenting is present throughout the cochlear duct at P5, by P21 tenting is absent from hair cells the basal turn and by P60 tenting is absent from all hair cells indicating loss of tip links

cochlear hair cell degeneration ( J:147149 )

• cells die by apoptosis

organ of Corti degeneration ( J:147149 )

• seen by P90

abnormal cochlear hair cell physiology ( J:147149 )

• current displacement assays indicate mild impairment of hair cell function at P7 - P8

abnormal hearing physiology ( J:147149 )

increased or absent threshold for auditory brainstem response ( J:119820 , J:147149 )

• auditory threshold of more than 90 dB, indicating that lines are severely hearing impaired in 8- to 12 week old animals (J:119820)

• thresholds at 2 weeks and 3 months of age are 78+/-15 dB and 100+/-5 dB, respectively compared to 20+/-5 dB in controls (J:147149)

absent distortion product otoacoustic emissions ( J:147149 )

impaired hearing ( J:147149 )

• hearing impaired across all frequencies

• progressive hearing loss

behavior/neurological

behavior/neurological phenotype ( J:147149 )

N • despite hearing loss, movement and swimming ability are normal indicating that the vestibular system is unaffected

decreased startle reflex ( J:119820 )

• low auditory startle response

nervous system

abnormal cochlear hair cell morphology ( J:147149 )

abnormal cochlear hair bundle tip links morphology ( J:147149 )

• while tenting is present throughout the cochlear duct at P5, by P21 tenting is absent from hair cells the basal turn and by P60 tenting is absent from all hair cells indicating loss of tip links

cochlear hair cell degeneration ( J:147149 )

• cells die by apoptosis

abnormal cochlear hair cell physiology ( J:147149 )

• current displacement assays indicate mild impairment of hair cell function at P7 - P8

cochlear ganglion degeneration ( J:147149 )

• seen by P90

• cells die by apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 12		DOID:0110467	OMIM:601386	J:147149