Phenotypes associated with this allele

• Allele Symbol: Myo6^sv
• Allele Name: Snell's waltzer
• Allele ID: MGI:1856555
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo6^sv/Myo6^sv	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J	MGI:3698726
hm2	Myo6^sv/Myo6^sv	involves: B10.HA/(33NX)Sn * C57BL/6J	MGI:3528185
hm3	Myo6^sv/Myo6^sv	involves: B10.HA/(33NX)Sn * SEC/1Gn	MGI:5433497
ht4	Myo6^sv/Myo6^+	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J	MGI:3698849
cx5	In(9Bmp5;Myo6)5Rl/Bmp5^se Myo6^sv	involves: 101/Rl * C3H/Rl	MGI:4436868
cx6	Myo15a^sh2/Myo15a^sh2 Myo6^sv/Myo6^sv	involves: B10.HA/(33NX)Sn	MGI:3528187
cx7	Myo15a^sh2/Myo15a^+ Myo6^sv/Myo6^+	involves: B10.HA/(33NX)Sn	MGI:3528186
cx8	Bmp5^se Myo6^sv/Bmp5^se Myo6^sv	involves: B10.HA/(33NX)Sn * C57BL/6J	MGI:5433383

Genotype
MGI:3698726

hm1

• Allelic Composition: Myo6^sv/Myo6^sv
• Genetic Background: B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J

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

hearing/vestibular/ear

absent linear vestibular evoked potential ( J:116914 )

• VESPs are absent at the maximum stimulus intensity used

behavior/neurological

abnormal reflex ( J:116914 )

• 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

impaired swimming ( J:116914 )

• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

circling ( J:116914 )

Genotype
MGI:3528185

hm2

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

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:134368 , J:29898 )

• 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

Genotype
MGI:5433497

hm3

• Allelic Composition: Myo6^sv/Myo6^sv
• Genetic Background: involves: B10.HA/(33NX)Sn * SEC/1Gn

hearing/vestibular/ear

detached tectorial membrane ( J:5044 )

• the tectoral membrane detaches as the hair cells degenerate

cochlear degeneration ( J:5044 )

• 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

organ of Corti degeneration ( J:5044 )

stria vascularis degeneration ( J:5044 )

• degeneration runs parallel with that of the organ of Corti

vestibular hair cell degeneration ( J:5044 )

abnormal crista ampullaris neuroepithelium morphology ( J:5044 )

• degeneration begins at approximately 3 weeks of age, progresses rapidly during the first 2 months then slows

utricular macular degeneration ( J:5044 )

• 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

vestibular saccular macula degeneration ( J:5044 )

• appears normal until approximately 3 weeks of age

abnormal otolithic membrane morphology ( J:5044 )

deafness ( J:5044 )

• complete deafness with homozygotes failing to respond to sound at any time in their life

behavior/neurological

impaired swimming ( J:5044 )

• fail to orient in water or remain on the surface

head tossing ( J:5044 )

hyperactivity ( J:5044 )

• near constant hyperactivity when awake

circling ( J:5044 )

bidirectional circling ( J:5044 )

nervous system

vestibular hair cell degeneration ( J:5044 )

cochlear ganglion degeneration ( J:5044 )

• noticeable soon after hair cell degeneration, progressing until nearly absent by a year of age

vestibular ganglion degeneration ( J:5044 )

• slow, progressive degeneration, differing from that of the spiral ganglion and occurring later

Genotype
MGI:3698849

ht4

• Allelic Composition: Myo6^sv/Myo6⁺
• Genetic Background: B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J

hearing/vestibular/ear

reduced linear vestibular evoked potential ( J:116914 )

• elevated threshold and reduced amplitudes

Genotype
MGI:4436868

cx5

• Allelic Composition: In(9Bmp5;Myo6)5Rl/Bmp5^se Myo6^sv
• Genetic Background: involves: 101/Rl * C3H/Rl

behavior/neurological

circling ( J:100221 )

• waltzer-like; resembles Myo6^sv

craniofacial

short ears ( J:100221 )

• described as short ears

hearing/vestibular/ear

short ears ( J:100221 )

• described as short ears

impaired hearing ( J:100221 )

growth/size/body

short ears ( J:100221 )

• described as short ears

Genotype
MGI:3528187

cx6

• Allelic Composition: Myo15a^sh2/Myo15a^sh2; Myo6^sv/Myo6^sv
• Genetic Background: involves: B10.HA/(33NX)Sn

growth/size/body

decreased body size ( J:86379 )

• slightly reduced body size

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:86379 )

abnormal cochlear hair cell stereociliary bundle morphology ( J:86379 )

• at 3-4 weeks of age, a few short stereocilia protrude from each hair cell in addition to a single giant stereocilium

short cochlear hair cell stereocilia ( J:86379 )

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:86379 )

• at 3-4 weeks of age, a few short stereocilia protrude from each hair cell in addition to a single giant stereocilium

short cochlear hair cell stereocilia ( J:86379 )

Genotype
MGI:3528186

cx7

• Allelic Composition: Myo15a^sh2/Myo15a⁺; Myo6^sv/Myo6⁺
• Genetic Background: involves: B10.HA/(33NX)Sn

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:86379 )

• slightly increased risk of age related hearing loss

Genotype
MGI:5433383

cx8

• Allelic Composition: Bmp5^se Myo6^sv/Bmp5^se Myo6^sv
• Genetic Background: involves: B10.HA/(33NX)Sn * C57BL/6J

mortality/aging

prenatal lethality, incomplete penetrance ( J:5044 )

• 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