Phenotypes associated with this allele
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo6sv mutation
(1 available);
any
Myo6 mutation
(90 available)
|
|
|
hearing/vestibular/ear
|
• VESPs are absent at the maximum stimulus intensity used
|
behavior/neurological
|
• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior
|
|
• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface
|
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
(1 available);
any
Myo6 mutation
(90 available)
|
|
|
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
|
Allelic Composition |
Myo6sv/Myo6sv
|
|
Genetic Background |
involves: B10.HA/(33NX)Sn * SEC/1Gn |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo6sv mutation
(1 available);
any
Myo6 mutation
(90 available)
|
|
|
hearing/vestibular/ear
|
• the tectoral membrane detaches as the hair cells degenerate
|
|
• The organ of Corti develops normally until 12 days of age when the hair cells begin to degenerate and by 18 days of age there is considerable degeneration
|
|
• degeneration runs parallel with that of the organ of Corti
|
|
• degeneration begins at approximately 3 weeks of age, progresses rapidly during the first 2 months then slows
|
|
• degeneration does not begin until approximately 3 months of age is is more slow and less complete than degeneration in the macula of the saccule
|
|
• appears normal until approximately 3 weeks of age
|
|
• complete deafness with homozygotes failing to respond to sound at any time in their life
|
behavior/neurological
|
• fail to orient in water or remain on the surface
|
|
• near constant hyperactivity when awake
|
nervous system
|
• noticeable soon after hair cell degeneration, progressing until nearly absent by a year of age
|
|
• slow, progressive degeneration, differing from that of the spiral ganglion and occurring later
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo6sv mutation
(1 available);
any
Myo6 mutation
(90 available)
|
|
|
hearing/vestibular/ear
|
• elevated threshold and reduced amplitudes
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation
(72 available);
any
Bmp5 mutation
(116 available)
In(9Bmp5-Myo6)5Rl mutation
(0 available);
any
In(9Bmp5-Myo6)5Rl mutation
(0 available)
Myo6sv mutation
(1 available);
any
Myo6 mutation
(90 available)
|
|
|
behavior/neurological
|
• waltzer-like; resembles Myo6sv
|
craniofacial
|
• described as short ears
|
hearing/vestibular/ear
|
• described as short ears
|
growth/size/body
|
• described as short ears
|
growth/size/body
|
• slightly reduced body size
|
hearing/vestibular/ear
|
• at 3-4 weeks of age, a few short stereocilia protrude from each hair cell in addition to a single giant stereocilium
|
nervous system
|
• at 3-4 weeks of age, a few short stereocilia protrude from each hair cell in addition to a single giant stereocilium
|
Allelic Composition |
Myo15ash2/Myo15a+ Myo6sv/Myo6+
|
|
Genetic Background |
involves: B10.HA/(33NX)Sn |
|
|
|
hearing/vestibular/ear
|
• slightly increased risk of age related hearing loss
|
mortality/aging
|
• The percentage of double homozygotes generated from crosses of double homozygotes with double heterozgyotes in coupling is significantly lower than Mendelian prediction indicating prenatal lethality in the compound homozygote more severe than in either single homozygote
|