Phenotypes Associated with This Genotype

Genotype
MGI:3511901

• Allelic Composition: Myo7a^Hdb/Myo7a^4626SB
• Genetic Background: involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca

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

Cochlear hair cell abnormalities in Myo7a^Hdb/Myo7a⁺, Myo7a^Hdb/Myo7a⁺ Myo7a^4626SB/Myo7a⁺, and Myo7a^sh1/Myo7a^sh1 mice

hearing/vestibular/ear

abnormal inner hair cell stereociliary bundle morphology ( J:93998 )

• apical stereocilia bundles of inner hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes

fused inner hair cell stereocilia ( J:93998 )

• inner hair cell fusion was significantly reduced compared to that seen in Hdb homozygotes but not when compared to Hdb heterozygotes

abnormal outer hair cell stereociliary bundle morphology ( J:93998 )

• apical stereocilia bundles of outer hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes

nervous system

abnormal inner hair cell stereociliary bundle morphology ( J:93998 )

• apical stereocilia bundles of inner hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes

fused inner hair cell stereocilia ( J:93998 )

• inner hair cell fusion was significantly reduced compared to that seen in Hdb homozygotes but not when compared to Hdb heterozygotes

abnormal outer hair cell stereociliary bundle morphology ( J:93998 )

• apical stereocilia bundles of outer hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1		DOID:0110826	OMIM:276900	J:93998