Phenotypes Associated with This Genotype

Genotype
MGI:6192643

• Allelic Composition: Cib2^tm1.1Aela/Cib2^tm1.1Aela
• Genetic Background: involves: BALB/c * C57BL/6 * C57BL/6N

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

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:262464 )

• hair cells show an increase in apoptosis in the cochlea at P20

cochlear hair cell degeneration ( J:262464 )

• mice show progressive postnatal base-to-apex degeneration of cochlear hair bundles beginning at P6, with a near-complete loss of inner hair cell and outer hair cell bundles at P120

abnormal hair cell mechanoelectric transduction ( J:262464 )

• no mechanoelectrical transduction (MET) current is recorded in mechanically stimulated hair bundles of P7 outer hair cells in the apical third of the cochlea

abnormal hearing physiology ( J:262464 )

absent cochlear microphonics ( J:262464 )

• the cochlear microphonic potential response is absent

increased or absent threshold for auditory brainstem response ( J:262464 )

• ABR thresholds in response to tone bursts increase over the 5- to 40-kHz frequency range to a sound pressure level of over 100 dB, versus 20-40 dB sound pressure level in controls

absent distortion product otoacoustic emissions ( J:262464 )

• distortion product otoacoustic emissions (DPOAEs) elicited by two-tone stimuli are absent in P20 mice

deafness ( J:262464 )

• early onset total hearing loss

• however, mice exhibit normal vestibular function

nervous system

abnormal cochlear hair cell morphology ( J:262464 )

• hair cells show an increase in apoptosis in the cochlea at P20

cochlear hair cell degeneration ( J:262464 )

• mice show progressive postnatal base-to-apex degeneration of cochlear hair bundles beginning at P6, with a near-complete loss of inner hair cell and outer hair cell bundles at P120

absent cochlear microphonics ( J:262464 )

• the cochlear microphonic potential response is absent

abnormal hair cell mechanoelectric transduction ( J:262464 )

• no mechanoelectrical transduction (MET) current is recorded in mechanically stimulated hair bundles of P7 outer hair cells in the apical third of the cochlea

vision/eye

vision/eye phenotype ( J:262464 )

N • mice exhibit normal retinal function and morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 48		DOID:0110505	OMIM:609439	J:262464
NOT	Usher syndrome type 1J	DOID:0110836	OMIM:614869	J:262464