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Phenotypes Associated with This Genotype
Genotype
MGI:3528185
Allelic
Composition
Myo6sv/Myo6sv
Genetic
Background
involves: B10.HA/(33NX)Sn * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo6sv mutation (2 available); any Myo6 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants can be identified by head bobbing
• mutants can be identified by circling behavior (J:134368)

growth/size/body
• slightly reduced body size

hearing/vestibular/ear
• in adults there was degeneration of the entire neuroepithelium in the inner ear
• 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 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
• hair cell degeneration apparent by 3 weeks of age
• by 6 weeks of age, inner hair cells in the organ of Corti were lost
• by 6 weeks of age, outer hair cells in the organ of Corti were lost
• no action potentials generated in the cochlear nerve by direct cochlear stimulation

reproductive system
• both sexes were fertile but with reduced productivity

nervous system
• 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 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
• hair cell degeneration apparent by 3 weeks of age
• by 6 weeks of age, inner hair cells in the organ of Corti were lost
• by 6 weeks of age, outer hair cells in the organ of Corti were lost
• no action potentials generated in the cochlear nerve by direct cochlear stimulation

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory