Phenotypes Associated with This Genotype

Genotype
MGI:3528185

• Allelic Composition: Myo6^sv/Myo6^sv
• Genetic Background: involves: B10.HA/(33NX)Sn * C57BL/6J

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

behavior/neurological

hyperactivity ( J:29898 )

stereotypic behavior ( J:29898 )

head bobbing ( J:134368 )

• mutants can be identified by head bobbing

head tossing ( J:29898 )

circling ( J:29898 , J:134368 )

• mutants can be identified by circling behavior (J:134368)

growth/size/body

decreased body size ( J:86379 )

• slightly reduced body size

hearing/vestibular/ear

abnormal cochlear sensory epithelium morphology ( J:29898 )

• in adults there was degeneration of the entire neuroepithelium in the inner ear

fused inner hair cell stereocilia ( J:58030 )

• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse

• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive

fused outer hair cell stereocilia ( J:58030 )

• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse

• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive

cochlear hair cell degeneration ( J:29898 )

• hair cell degeneration apparent by 3 weeks of age

cochlear inner hair cell degeneration ( J:29898 )

• by 6 weeks of age, inner hair cells in the organ of Corti were lost

cochlear outer hair cell degeneration ( J:29898 )

• by 6 weeks of age, outer hair cells in the organ of Corti were lost

organ of Corti degeneration ( J:29898 )

• in adults

absent cochlear nerve compound action potential ( J:29898 )

• no action potentials generated in the cochlear nerve by direct cochlear stimulation

reproductive system

reduced fertility ( J:29898 )

• both sexes were fertile but with reduced productivity

nervous system

fused inner hair cell stereocilia ( J:58030 )

• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse

• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive

fused outer hair cell stereocilia ( J:58030 )

• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse

• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive

cochlear hair cell degeneration ( J:29898 )

• hair cell degeneration apparent by 3 weeks of age

cochlear inner hair cell degeneration ( J:29898 )

• by 6 weeks of age, inner hair cells in the organ of Corti were lost

cochlear outer hair cell degeneration ( J:29898 )

• by 6 weeks of age, outer hair cells in the organ of Corti were lost

absent cochlear nerve compound action potential ( J:29898 )

• no action potentials generated in the cochlear nerve by direct cochlear stimulation

vision/eye

vision/eye phenotype ( J:134368 )

N • retinal morphology appears normal; photoreceptor ultrastructure and photoreceptor counts in animals aged 224-303 days are not different from controls

abnormal eye electrophysiology ( J:134368 )

• in mutants 42-48 days old, a- and b-waves in electroretinogram are reduced in amplitude (25 and 30% respectively) compared to littermate controls

• intensity-response curves are reduced in amplitude by 20% at flash intensities above 3.0 and 6.0 log units of attenuation for a- and b-waves, respectively000

• amplitudes are similary reduced in mutants 254-257 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 22		DOID:0110552	OMIM:606346	J:29898
autosomal recessive nonsyndromic deafness 37		DOID:0110495	OMIM:607821	J:29898