Phenotypes associated with this allele

• Allele Symbol: Myo6^em1Bcgen
• Allele Name: endonuclease-mediated mutation 1, Biocytogen LLC
• Allele ID: MGI:6431142
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo6^em1Bcgen/Myo6^em1Bcgen	involves: C57BL/6J * CBA/CaJ	MGI:6431143
ht2	Myo6^em1Bcgen/Myo6^+	involves: C57BL/6J * CBA/CaJ	MGI:6431144

Genotype
MGI:6431143

hm1

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

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

behavior/neurological

head tossing ( J:288210 )

• mice begin to show incessant head tossing at 3 months of age

abnormal gait ( J:288210 )

• mice begin to show an unstable gait at 3 months of age

hyperactivity ( J:288210 )

• mice begin to show hyperactivity at 3 months of age

hearing/vestibular/ear

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

• stereocilia appear twisted, flexed, and fused and flaccid and lack rigidity

• disorganization and degeneration of stereocilia bundles in residual hair cells

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

• inner hair cell hair bundles appear shrunken and twisted

fused inner hair cell stereocilia ( J:288210 )

• some inner hair cell bundles are fused into some big rods

cochlear hair cell degeneration ( J:288210 )

• mice show progressive loss of hair cells in an apical to basal gradient across the basilar membrane, with minor degeneration at 3 weeks of age and severe hair loss at 9 weeks

• 73.3% of outer hair cells and 62.7% of inner hair cells are ablated in the basal turns, with moderate loss across middle and apical turns and all outer hair cells in cochlear middle and basal turns die off by 3 months of age

• outer hair cell degeneration is more severe than inner hair cell

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

• hair bundles atop vestibular hair cells degenerate, resulting in a decrease of stereocilia bundle density

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 )

• mice become profoundly deaf by 6 weeks of age

nervous system

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

• stereocilia appear twisted, flexed, and fused and flaccid and lack rigidity

• disorganization and degeneration of stereocilia bundles in residual hair cells

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

• inner hair cell hair bundles appear shrunken and twisted

fused inner hair cell stereocilia ( J:288210 )

• some inner hair cell bundles are fused into some big rods

cochlear hair cell degeneration ( J:288210 )

• mice show progressive loss of hair cells in an apical to basal gradient across the basilar membrane, with minor degeneration at 3 weeks of age and severe hair loss at 9 weeks

• 73.3% of outer hair cells and 62.7% of inner hair cells are ablated in the basal turns, with moderate loss across middle and apical turns and all outer hair cells in cochlear middle and basal turns die off by 3 months of age

• outer hair cell degeneration is more severe than inner hair cell

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

• hair bundles atop vestibular hair cells degenerate, resulting in a decrease of stereocilia bundle density

Genotype
MGI:6431144

ht2

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

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