Phenotypes Associated with This Genotype

Genotype
MGI:8210943

• Allelic Composition: Tmtc4^em1Dkc/Tmtc4^em1Dkc; Myo15a^{tm1.1(cre)Ugds}/Myo15a⁺
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

hearing/vestibular/ear

cochlear hair cell degeneration ( J:351171 )

• mice exhibit intact hair cells through P30 but partial hair cell loss in all 3 cochlear turns at P45

increased or absent threshold for auditory brainstem response ( J:351171 )

• auditory brainstem response (ABR) threshold shows elevation at P19 with a further increase at P24 and P28

increased or absent distortion product otoacoustic emission threshold ( J:351171 )

• distortion product otoacoustic emissions (DPOAEs) threshold is normal at auditory onset but thresholds are elevated in adult (older than P26) mice

nonsyndromic hearing loss ( J:351171 )

• mice exhibit normal ABRs and DPOAEs at auditory onset (P13) but show rapid progression to complete deafness by P26

nervous system

cochlear hair cell degeneration ( J:351171 )

• mice exhibit intact hair cells through P30 but partial hair cell loss in all 3 cochlear turns at P45

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness		DOID:0050565	OMIM:607197 OMIM:PS220290	J:351171