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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tmc2tm1.1Ajg
targeted mutation 1.1, Andrew J Griffith
MGI:5427099
Summary 4 genotypes


Genotype
MGI:5427101
hm1
Allelic
Composition		 Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic
Background		 B6.129-Tmc2tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal cochlear hair cell physiology ( J:184419 )
• partially resistant to gentamicin induced toxicity with hair cell loss confined to the basal end of the cochlea

behavior/neurological
behavior/neurological phenotype ( J:184419 )
N
• normal motor behavior

nervous system
abnormal cochlear hair cell physiology ( J:184419 )
• partially resistant to gentamicin induced toxicity with hair cell loss confined to the basal end of the cochlea




Genotype
MGI:5427102
cx2
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic
Background		 B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (60 available)
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal vestibuloocular dark reflex ( J:184419 )
• negligible acceleration gain values at 2-3 months of age during high-acceleration, whole-body rotations in darkness
cochlear inner hair cell degeneration ( J:184419 )
• first detected at approximately P9
cochlear outer hair cell degeneration ( J:184419 )
• first detected at P5 and P7 in the basal and apical cochlear turns, respectively
abnormal hair cell physiology ( J:184419 )
• utricle hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• utricle hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal cochlear hair cell physiology ( J:184419 )
• hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal hair cell mechanoelectric transduction ( J:184419 )
• basal outer hair cells lack mechanotransduction currents
• however, tip-links appear to be intact
increased or absent threshold for auditory brainstem response ( J:184419 )
• increased ABR threshold at all frequencies tested
deafness ( J:184419 )
• profound

behavior/neurological
impaired righting response ( J:184419 )
• early postnatal pups lack the ability to right from a supine position
abnormal vestibuloocular dark reflex ( J:184419 )
• negligible acceleration gain values at 2-3 months of age during high-acceleration, whole-body rotations in darkness
ataxia ( J:184419 )
• ataxic gait
head bobbing ( J:184419 )
• bobbing and arching

nervous system
cochlear inner hair cell degeneration ( J:184419 )
• first detected at approximately P9
cochlear outer hair cell degeneration ( J:184419 )
• first detected at P5 and P7 in the basal and apical cochlear turns, respectively
abnormal hair cell physiology ( J:184419 )
• utricle hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• utricle hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal cochlear hair cell physiology ( J:184419 )
• hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal hair cell mechanoelectric transduction ( J:184419 )
• basal outer hair cells lack mechanotransduction currents
• however, tip-links appear to be intact




Genotype
MGI:5427103
cx3
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1+
Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic
Background		 B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (60 available)
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal vestibuloocular dark reflex ( J:184419 )
• reduced acceleration gain values at 2-3 months of age compared to wild-type controls but increased compared to double homozygous mice

hearing/vestibular/ear
abnormal vestibuloocular dark reflex ( J:184419 )
• reduced acceleration gain values at 2-3 months of age compared to wild-type controls but increased compared to double homozygous mice




Genotype
MGI:5427104
cx4
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Tmc2tm1.1Ajg/Tmc2+
Genetic
Background		 B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (60 available)
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal hair cell mechanoelectric transduction ( J:184419 )
• significant reduction in transduction current amplitudes in outer hair cells from the P2-P4 basal cochlea

nervous system
abnormal hair cell mechanoelectric transduction ( J:184419 )
• significant reduction in transduction current amplitudes in outer hair cells from the P2-P4 basal cochlea




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory