Phenotypes associated with this allele

• Allele Symbol: Myo7a^{tm1b(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:6405407
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo7a^tm1b(EUCOMM)Wtsi/Myo7a^tm1b(EUCOMM)Wtsi	B6J.Cg-Myo7a^tm1b(EUCOMM)Wtsi	MGI:6405698
ht2	Myo7a^tm1b(EUCOMM)Wtsi/Myo7a^+	B6J.Cg-Myo7a^tm1b(EUCOMM)Wtsi	MGI:6405699

Genotype
MGI:6405698

hm1

• 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

Genotype
MGI:6405699

ht2

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

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:283233 )

• mice show profound loss of outer hair cells in the basal cochlear and only minimal loss of inner hair cells in the apical and middle cochlear regions

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

• males show a 16-22-dB increase in ABR threshold at 16 and 32 kHz

• females show a 23-25-dB increase in ABR threshold at 16-32 kHz

sensorineural hearing loss ( J:283233 )

• early onset age-related hearing loss

• mice exhibit severe hearing loss at the mid and high frequencies

vision/eye

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

decreased a-wave amplitude ( J:283233 )

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

decreased b-wave amplitude ( J:283233 )

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

nervous system

cochlear outer hair cell degeneration ( J:283233 )

• mice show profound loss of outer hair cells in the basal cochlear and only minimal loss of inner hair cells in the apical and middle cochlear regions

cochlear ganglion degeneration ( J:283233 )

• mice show a reduction of spiral ganglion neurons