Phenotypes associated with this allele

• Allele Symbol: Tmtc4^em1Dkc
• Allele Name: endonuclease-mediated mutation 1, Dylan K Chan
• Allele ID: MGI:8210905
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tmtc4^em1Dkc/Tmtc4^em1Dkc Prox1^tm3(cre/ERT2)Gco/Prox1^+	involves: 129S1/Sv * C57BL/6J	MGI:8210953
cn2	Tmtc4^em1Dkc/Tmtc4^em1Dkc Myo15a^tm1.1(cre)Ugds/Myo15a^+	involves: 129S1/SvImJ * C57BL/6J	MGI:8210943
cn3	Tmtc4^em1Dkc/Tmtc4^em1Dkc Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6J * CBA	MGI:8210948

Genotype
MGI:8210953

cn1

• Allelic Composition: Tmtc4^em1Dkc/Tmtc4^em1Dkc; Prox1^{tm3(cre/ERT2)Gco}/Prox1⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:351171 )

N • hearing is unaffected in mice induced with tamoxifen at P16 by P45

Genotype
MGI:8210943

cn2

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

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

Genotype
MGI:8210948

cn3

• Allelic Composition: Tmtc4^em1Dkc/Tmtc4^em1Dkc; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

hearing/vestibular/ear

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

nonsyndromic hearing loss ( J:351171 )

• mice exhibit profound hearing loss after auditory onset (after P15)

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