Phenotypes Associated with This Genotype

Genotype
MGI:7331344

• Allelic Composition: Osbpl2^em1Cya/Osbpl2^em1Cya
• Genetic Background: C57BL/6-Osbpl2^em1Cya

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:324115 )

• cochlea is shortened

abnormal cochlear sensory epithelium morphology ( J:324115 )

• sensory epithelium is shorter

abnormal cochlear hair cell morphology ( J:324115 )

• P3 mice show 5 rows of hair cells versus 4 rows in controls at the cochlear apex and no ectopic hair cells are seen in the middle or base of the cochleae

• abnormal planar cell polarity of the hair cells is seen in P1 and P3 mice

abnormal inner hair cell kinocilium morphology ( J:324115 )

• kinocilia in the inner hair cells are shorter in P1 and P3 mice

• kinocilia of the inner hair cells of the cochlear base are mostly lost at P10

abnormal outer hair cell kinocilium morphology ( J:324115 )

• kinocilia in the outer hair cells are shorter in P1 and P3 mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:324115 )

• some stereocilia bundles are misoriented in the cochlear basal turn of P1 mice and this is more significant at P3

abnormal organ of Corti supporting cell morphology ( J:324115 )

• primary cilia in supporting cells of the cochlear basal turn are shorter in P1 and P3 mice

small otic capsule ( J:324115 )

abnormal auditory brainstem response waveform shape ( J:324115 )

• the auditory brainstem response (ABR) peak 1 amplitude is reduced at 32 kHz in 1-month-old mice

increased or absent threshold for auditory brainstem response ( J:324115 )

• mice show elevated ABR threshold shifts at each tested frequency and more severe hearing loss is detected at high frequency at 6 months of age

• however, the ABR threshold at 1 month of age is not different from wild-type mice indicating late-onset hearing loss

increased or absent distortion product otoacoustic emission threshold ( J:324115 )

• distortion product otoacoustic emission (DPOAE) thresholds are increased in 1-month-old mice

impaired hearing ( J:324115 )

• mice exhibit progressive hearing loss

• month-old mice maintain a hearing decline which is aggravated from the high to low cochlear frequencies

nervous system

abnormal cochlear hair cell morphology ( J:324115 )

• P3 mice show 5 rows of hair cells versus 4 rows in controls at the cochlear apex and no ectopic hair cells are seen in the middle or base of the cochleae

• abnormal planar cell polarity of the hair cells is seen in P1 and P3 mice

abnormal inner hair cell kinocilium morphology ( J:324115 )

• kinocilia in the inner hair cells are shorter in P1 and P3 mice

• kinocilia of the inner hair cells of the cochlear base are mostly lost at P10

abnormal outer hair cell kinocilium morphology ( J:324115 )

• kinocilia in the outer hair cells are shorter in P1 and P3 mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:324115 )

• some stereocilia bundles are misoriented in the cochlear basal turn of P1 mice and this is more significant at P3

cellular

abnormal primary cilium morphology ( J:324115 )

• primary cilia in supporting cells of the cochlear basal turn are shorter in P1 and P3 mice

abnormal inner hair cell kinocilium morphology ( J:324115 )

• kinocilia in the inner hair cells are shorter in P1 and P3 mice

• kinocilia of the inner hair cells of the cochlear base are mostly lost at P10

abnormal outer hair cell kinocilium morphology ( J:324115 )

• kinocilia in the outer hair cells are shorter in P1 and P3 mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 67		DOID:0110588	OMIM:616340	J:324115