Phenotypes Associated with This Genotype

Genotype
MGI:6431144

• Allelic Composition: Myo6^em1Bcgen/Myo6⁺
• Genetic Background: involves: C57BL/6J * CBA/CaJ

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

behavior/neurological

impaired balance ( J:288210 )

• mice show mild behavioral anomalies around 5 months of age that deteriorate irreversibly to severe balance problems

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:288210 )

• most hair bundles anchored on remaining outer hair cells and inner hair cells retain normal morphology, but some are disorganized with fused stereocilia and rotated polarity

abnormal orientation of cochlear hair cell stereociliary bundles ( J:288210 )

• some hair bundles show rotated polarity

cochlear hair cell degeneration ( J:288210 )

• minor hair cell degeneration is seen on the basilar membrane at 3 weeks of age that progresses over time such that severe hair cell loss is seen at 9 weeks after birth

increased or absent threshold for auditory brainstem response ( J:288210 )

• mice exhibit elevated ABR hearing thresholds at 3 weeks of age which progress irreversibly over time

deafness ( J:288210 )

• all mice become profoundly deaf by 12 weeks after birth

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:288210 )

• most hair bundles anchored on remaining outer hair cells and inner hair cells retain normal morphology, but some are disorganized with fused stereocilia and rotated polarity

abnormal orientation of cochlear hair cell stereociliary bundles ( J:288210 )

• some hair bundles show rotated polarity

cochlear hair cell degeneration ( J:288210 )

• minor hair cell degeneration is seen on the basilar membrane at 3 weeks of age that progresses over time such that severe hair cell loss is seen at 9 weeks after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 22		DOID:0110552	OMIM:606346	J:288210