Phenotypes Associated with This Genotype

Genotype
MGI:6405698

• Allelic Composition: Myo7a^{tm1b(EUCOMM)Wtsi}/Myo7a^{tm1b(EUCOMM)Wtsi}
• Genetic Background: B6J.Cg-Myo7a^{tm1b(EUCOMM)Wtsi}

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

hearing/vestibular/ear

cochlear hair cell degeneration ( J:283233 )

• mice show near complete loss of both inner and outer hair cells in the middle and basal cochlear regions

thin stria vascularis ( J:283233 )

• mice show reduced stria vascularis thickness or atrophy in the basal cochlea

cochlear degeneration ( J:283233 )

• degeneration of cochlear structure

• however, vestibular hair cells are preserved in 5 month old mice

increased or absent threshold for auditory brainstem response ( J:283233 )

deafness ( J:283233 )

sensorineural hearing loss ( J:283233 )

• males and females exhibit profound hearing loss across all frequencies

vision/eye

impaired pupillary reflex ( J:283233 )

• eyes do not dilate as quickly as controls

abnormal electroretinogram waveform feature ( J:283233 )

• scotopic and photopic amplitudes are only modestly reduced after 1 month of age and are reduced by about 20% by 6 months

• however, no gross structural changes are seen in the retina, with normal outer nuclear layer thickness

decreased a-wave amplitude ( J:283233 )

• scotopic a-wave amplitude is modestly reduced after 2 months of age

decreased b-wave amplitude ( J:283233 )

• scotopic and photopic b-wave amplitudes are modestly reduced after 2 months of age

behavior/neurological

impaired pupillary reflex ( J:283233 )

• eyes do not dilate as quickly as controls

head tilt ( J:283233 )

hyperactivity ( J:283233 )

spinning ( J:283233 )

nervous system

cochlear hair cell degeneration ( J:283233 )

• mice show near complete loss of both inner and outer hair cells in the middle and basal cochlear regions

cochlear ganglion degeneration ( J:283233 )

• mice show near complete loss of spiral ganglion neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1		DOID:0110826	OMIM:276900	J:283233