Phenotypes associated with this allele

• Allele Symbol: Gjb6^tm1.1Fama
• Allele Name: targeted mutation 1.1, Fabio Mammano
• Allele ID: MGI:4848154
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjb6^tm1.1Fama/Gjb6^tm1.1Fama	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4848186
ht2	Gjb6^tm1.1Fama/Gjb6^+	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4848187

Genotype
MGI:4848186

hm1

• Allelic Composition: Gjb6^tm1.1Fama/Gjb6^tm1.1Fama
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:166362 )

• mild

abnormal cochlear potential ( J:166362 )

• cochlear non-sensory cells exhibit reduced frequency of occurrence and peak amplitude of calcium ion transits compared with wild-type cells

• medium to large amplitude events are missing unlike in wild-type mice

• however, mice exhibit normal endocochlear potential

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 1A		DOID:0110475	OMIM:220290	J:166362

Genotype
MGI:4848187

ht2

• Allelic Composition: Gjb6^tm1.1Fama/Gjb6⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:166362 )

N • unlike heterozygous human carriers, mice exhibit normal auditory brainstem responses