Phenotypes Associated with This Genotype

Genotype
MGI:4848186

• 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