Phenotypes associated with this allele

• Allele Symbol: Tmem43^em1Cby
• Allele Name: endonuclease-mediated mutation 1, Byung Yoon Choi
• Allele ID: MGI:6888277
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem43^em1Cby/Tmem43^em1Cby	involves: 129 * C57BL/6J	MGI:6888289
ht2	Tmem43^em1Cby/Tmem43^+	involves: 129 * C57BL/6J	MGI:6888288

Genotype
MGI:6888289

hm1

• Allelic Composition: Tmem43^em1Cby/Tmem43^em1Cby
• Genetic Background: involves: 129 * C57BL/6J

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

hearing/vestibular/ear

conductive hearing loss ( J:314357 )

• 89% reduction in passive conductance of isolated cochlear glia-like supporting cells (GLSs)

Genotype
MGI:6888288

ht2

• Allelic Composition: Tmem43^em1Cby/Tmem43⁺
• Genetic Background: involves: 129 * C57BL/6J

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:314357 )

N • normal shape and arrangement of stereocilia and number of synaptic ribbons at ages 2, 7 and 13 months

N • normal number of inner and outer hair cells (IHCs, OHCs) at age 3 months and OHCs age 7 months

N • normal spiral ganglion neuron (SGN) density

N • normal auditory brainstem response (ABR) at 16 kHZ at age 3 months

N • normal distortion product otoacoustic emissions (DPOAEs) at 4-32 kHz at ages 3 and 6 months

decreased cochlear inner hair cell number ( J:314357 )

• at age 7 months

• normal at age 3 months

abnormal organ of Corti supporting cell morphology ( J:314357 )

• progressively narrower apical surface area of cochlear glia-like supporting cells (GLSs), specifically on organ of Corti inner border cells, from age 7 months

abnormal auditory brainstem response waveform shape ( J:314357 )

• at 16 kHz at age 5 months

• reduced suprathreshold amplitude of wave I at 8 kHz at age 6 months

increased or absent threshold for auditory brainstem response ( J:314357 )

• at 16 and 32 kHz at age 6 months

• at all frequencies from age 9 months

• normal at 8 kHz at age 6 months

conductive hearing loss ( J:314357 )

• from age 6 months

• 63% reduction in passive conductance of isolated cochlear glia-like supporting cells (GLSs)

nervous system

decreased cochlear inner hair cell number ( J:314357 )

• at age 7 months

• normal at age 3 months

cardiovascular system

cardiovascular system phenotype ( J:314357 )

N • no arrhythmogenic right ventricular cardiomyopathy (ARVC)