Phenotypes associated with this allele

• Allele Symbol: Myo7a^sh1-8J
• Allele Name: shaker 1, 8 Jackson
• Allele ID: MGI:2182918
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo7a^sh1-8J/Myo7a^sh1-8J	B6.Cg-Myo7a^sh1-8J/J	MGI:3817193
ht2	Myo7a^sh1-8J/Myo7a^+	B6.Cg-Myo7a^sh1-8J/J	MGI:5425619
ht3	Myo7a^sh1-7J/Myo7a^sh1-8J	B6.Cg-Myo7a^sh1-7J Myo7a^sh1-8J	MGI:5425620
cx4	Cdh23^v-2J/Cdh23^+ Myo7a^sh1-8J/Myo7a^+	B6.Cg-Myo7a^sh1-8J Cdh23^v-2J	MGI:5425622
cx5	Myo7a^sh1-8J/Myo7a^+ Pcdh15^av-3J/Pcdh15^+	B6.Cg-Myo7a^sh1-8J Pcdh15^av-3J	MGI:5425623
cx6	Myo7a^sh1-8J/Myo7a^+ Ush1g^js/Ush1g^+	B6.Cg-Myo7a^sh1-8J Ush1g^js	MGI:5425621

Genotype
MGI:3817193

hm1

• Allelic Composition: Myo7a^sh1-8J/Myo7a^sh1-8J
• Genetic Background: B6.Cg-Myo7a^sh1-8J/J

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:183898 )

• hair bundles are disorganized at P2 and P6

abnormal vestibular hair cell stereociliary bundle morphology ( J:183898 )

• hair bundles are disorganized at P2 and P6

increased or absent threshold for auditory brainstem response ( J:183898 )

• lack ABR response even at the highest stimulus intensity (100 dB sound pressure level)

behavior/neurological

head bobbing ( J:77937 )

circling ( J:77937 , J:183898 )

• mice walk in a circling motion (J:77937)

abnormal parental behavior ( J:77937 )

• homozygotes of both sexes breed, but are not good parents

pigmentation

pigmentation phenotype ( J:141035 )

N • mice exhibit wild-type iris pigmentation

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:183898 )

• hair bundles are disorganized at P2 and P6

abnormal vestibular hair cell stereociliary bundle morphology ( J:183898 )

• hair bundles are disorganized at P2 and P6

Genotype
MGI:5425619

ht2

• Allelic Composition: Myo7a^sh1-8J/Myo7a⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J/J

hearing/vestibular/ear

impaired hearing ( J:183898 )

• slight but significant impairment compared to C57BL/6J controls only in older mice

Genotype
MGI:5425620

ht3

• Allelic Composition: Myo7a^sh1-7J/Myo7a^sh1-8J
• Genetic Background: B6.Cg-Myo7a^sh1-7J Myo7a^sh1-8J

behavior/neurological

absent startle reflex ( J:183898 )

circling ( J:183898 )

• at P20

Genotype
MGI:5425622

cx4

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Myo7a^sh1-8J/Myo7a⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Cdh23^v-2J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• modest but significant at some frequencies at 5-7 and 8-10 months of age compared to single heterozygotes

Genotype
MGI:5425623

cx5

• Allelic Composition: Myo7a^sh1-8J/Myo7a⁺; Pcdh15^av-3J/Pcdh15⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Pcdh15^av-3J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• slight but significant compared to single heterozygotes at some ages and frequencies

Genotype
MGI:5425621

cx6

• Allelic Composition: Myo7a^sh1-8J/Myo7a⁺; Ush1g^js/Ush1g⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Ush1g^js

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• at 16 and 32 kHz at 1-2 months of age and at all frequencies tested at 3-7 months of age compared to single heterozygotes

• synergistic hearing loss compared to single heterozygotes