Phenotypes associated with this allele

• Allele Symbol: Myo7a⁺
• Allele Name: wild type
• Allele ID: MGI:2433214
• Summary: 13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Myo7a^sh1-8J/Myo7a^+	B6.Cg-Myo7a^sh1-8J/J	MGI:5425619
ht2	Myo7a^tm1b(EUCOMM)Wtsi/Myo7a^+	B6J.Cg-Myo7a^tm1b(EUCOMM)Wtsi	MGI:6405699
ht3	Myo7a^Hdb/Myo7a^+	C3HeB/FeJ-Myo7a^Hdb/Ieg	MGI:3511898
ht4	Myo7a^4626SB/Myo7a^+	involves: BALB/cRl * 47BS/Rl * CBA/Ca	MGI:3789071
ht5	Myo7a^ewaso/Myo7a^+	involves: C57BL/6J	MGI:5487423
cx6	Cdh23^v-2J/Cdh23^+ Myo7a^sh1-8J/Myo7a^+	B6.Cg-Myo7a^sh1-8J Cdh23^v-2J	MGI:5425622
cx7	Myo7a^sh1-8J/Myo7a^+ Pcdh15^av-3J/Pcdh15^+	B6.Cg-Myo7a^sh1-8J Pcdh15^av-3J	MGI:5425623
cx8	Myo7a^sh1-8J/Myo7a^+ Ush1g^js/Ush1g^+	B6.Cg-Myo7a^sh1-8J Ush1g^js	MGI:5425621
cx9	Cdh23^v/Cdh23^+ Myo7a^sh1/Myo7a^+	involves: BALB	MGI:3768136
cx10	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^+	involves: BALB/cRl * 47BS/Rl * CBA/Ca	MGI:3789073
cx11	Cdh23^v-2J/Cdh23^+ Myo7a^4626SB/Myo7a^+	mixed	MGI:3715834
cx12	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^+	mixed	MGI:3715833
cx13	Cdh23^v/Cdh23^v Myo7a^4626SB/Myo7a^+	mixed	MGI:3715828

Genotype
MGI:5425619

ht1

• Allelic Composition: Myo7a^sh1-8J/Myo7a⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J/J

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

hearing/vestibular/ear

impaired hearing ( J:183898 )

• slight but significant impairment compared to C57BL/6J controls only in older mice

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

Genotype
MGI:3511898

ht3

• Allelic Composition: Myo7a^Hdb/Myo7a⁺
• Genetic Background: C3HeB/FeJ-Myo7a^Hdb/Ieg

Stereocilia defects in Myo7a^Hdb/Myo7a⁺ mice

behavior/neurological

head bobbing ( J:93998 )

• head bobbing observed following weaning

hyperactivity ( J:93998 )

• appeared hyperactive after weaning

hearing/vestibular/ear

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

• at E18.5 and P1, apical stereocilia bundles of inner hair cells did not exhibit a height gradient and inner hair cell stereocilia were disorganized

• at P1, the basal inner hair cell stereocilia were disorganized

fused inner hair cell stereocilia ( J:93998 )

• at P20, the inner hair cell stereocilia had more stereocilia sprouting from each cell that had elongated and fused together to form giant stereocilia

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

• at E18.5 and P1, apical stereocilia bundles of outer hair cells did not exhibit a height gradient

• at P20, the apical outer hair cell bundles formed a more circular pattern

• at P1, basal outer hair cell stereocilia bundles formed a U-shape rather than a V-shape

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

• at P20, utricles displayed bundles of very long and thin rigid stereocilia without the normal staircase arrangement while at 5 months, stereocilia bundles lost their rigidity, were splayed and lay against the utricular surface and showed wispy ends

increased cochlear nerve compound action potential ( J:93998 )

• 20-23 day old mutants displayed a large increase in the compound action potential thresholds from the round window of the cochlea at low frequencies (3-12 kHz)

nervous system

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

• at E18.5 and P1, apical stereocilia bundles of inner hair cells did not exhibit a height gradient and inner hair cell stereocilia were disorganized

• at P1, the basal inner hair cell stereocilia were disorganized

fused inner hair cell stereocilia ( J:93998 )

• at P20, the inner hair cell stereocilia had more stereocilia sprouting from each cell that had elongated and fused together to form giant stereocilia

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

• at E18.5 and P1, apical stereocilia bundles of outer hair cells did not exhibit a height gradient

• at P20, the apical outer hair cell bundles formed a more circular pattern

• at P1, basal outer hair cell stereocilia bundles formed a U-shape rather than a V-shape

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

• at P20, utricles displayed bundles of very long and thin rigid stereocilia without the normal staircase arrangement while at 5 months, stereocilia bundles lost their rigidity, were splayed and lay against the utricular surface and showed wispy ends

increased cochlear nerve compound action potential ( J:93998 )

• 20-23 day old mutants displayed a large increase in the compound action potential thresholds from the round window of the cochlea at low frequencies (3-12 kHz)

Genotype
MGI:3789071

ht4

• Allelic Composition: Myo7a^4626SB/Myo7a⁺
• Genetic Background: involves: BALB/cRl * 47BS/Rl * CBA/Ca

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:134369 )

• number is lower in all three rows in region centered at 14% of total cochlear duct length at 11-12 weeks of age; innermost row is most severely affected

• at the 33% region (30 kHz) of the coclear duct, numbers of outer hair cells in rows 1 and 2 are significantly reduced

• after 2 hours exposure to noise (8-16 kHz, 103 dB SPL), no hair cell loss at 14% or 33% regions, or at 58% region relative to non-exposed animals despite considerable threshold shift of 35 dB (at 12 kHz)

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• compound action potential (CAP) thresholds are significantly raised compared to wild-type mice at low (3, 6, and 9 kHz) and high (18, 24, and 30 kHz) frequencies at 11-12 weeks of age

increased susceptibility to age-related hearing loss ( J:134369 )

impaired hearing ( J:134369 )

• elevated CAP thresholds indicate hearing loss

nervous system

decreased cochlear outer hair cell number ( J:134369 )

• number is lower in all three rows in region centered at 14% of total cochlear duct length at 11-12 weeks of age; innermost row is most severely affected

• at the 33% region (30 kHz) of the coclear duct, numbers of outer hair cells in rows 1 and 2 are significantly reduced

• after 2 hours exposure to noise (8-16 kHz, 103 dB SPL), no hair cell loss at 14% or 33% regions, or at 58% region relative to non-exposed animals despite considerable threshold shift of 35 dB (at 12 kHz)

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• compound action potential (CAP) thresholds are significantly raised compared to wild-type mice at low (3, 6, and 9 kHz) and high (18, 24, and 30 kHz) frequencies at 11-12 weeks of age

Genotype
MGI:5487423

ht5

• Allelic Composition: Myo7a^ewaso/Myo7a⁺
• Genetic Background: involves: C57BL/6J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:195666 )

• at 24 weeks

Genotype
MGI:5425622

cx6

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Myo7a^sh1-8J/Myo7a⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Cdh23^v-2J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• modest but significant at some frequencies at 5-7 and 8-10 months of age compared to single heterozygotes

Genotype
MGI:5425623

cx7

• Allelic Composition: Myo7a^sh1-8J/Myo7a⁺; Pcdh15^av-3J/Pcdh15⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Pcdh15^av-3J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• slight but significant compared to single heterozygotes at some ages and frequencies

Genotype
MGI:5425621

cx8

• Allelic Composition: Myo7a^sh1-8J/Myo7a⁺; Ush1g^js/Ush1g⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Ush1g^js

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• at 16 and 32 kHz at 1-2 months of age and at all frequencies tested at 3-7 months of age compared to single heterozygotes

• synergistic hearing loss compared to single heterozygotes

Genotype
MGI:3768136

cx9

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^sh1/Myo7a⁺
• Genetic Background: involves: BALB

hearing/vestibular/ear

deafness ( J:13130 )

• mice lose their hearing at around 10 weeks of age

Genotype
MGI:3789073

cx10

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^4626SB/Myo7a⁺
• Genetic Background: involves: BALB/cRl * 47BS/Rl * CBA/Ca

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:134369 )

N

decreased cochlear outer hair cell number ( J:134369 )

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• after 2 hours exposure to noise, CAP thresholds are not elevated at 12 kHz (frequency at center of bandwidth used) compared to non noise-exposed littermates; Cdh23^sv heterozygotes and Cdh23;Myo7a double heterozygotes show significantly higher CAP threshold shifts compared to wild-type after noise exposure

• thresholds at 30 kHz are raised at in Cdh23 heterozygotes and wild-type, but not in Myo7a heterozygotes or double heterozygotes, although these mice already have significant (35 dB) hearing loss at this frequency

nervous system

decreased cochlear outer hair cell number ( J:134369 )

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• after 2 hours exposure to noise, CAP thresholds are not elevated at 12 kHz (frequency at center of bandwidth used) compared to non noise-exposed littermates; Cdh23^sv heterozygotes and Cdh23;Myo7a double heterozygotes show significantly higher CAP threshold shifts compared to wild-type after noise exposure

• thresholds at 30 kHz are raised at in Cdh23 heterozygotes and wild-type, but not in Myo7a heterozygotes or double heterozygotes, although these mice already have significant (35 dB) hearing loss at this frequency

Genotype
MGI:3715834

cx11

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Myo7a^4626SB/Myo7a⁺
• Genetic Background: mixed

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108877 )

• similar to Cdh23^v-2J heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

behavior/neurological

absent pinna reflex ( J:108877 )

• similar to Cdh23^v-2J heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

Genotype
MGI:3715833

cx12

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^4626SB/Myo7a⁺
• Genetic Background: mixed

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108877 )

• similar to Cdh23^v heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

behavior/neurological

absent pinna reflex ( J:108877 )

• similar to Cdh23^v heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

Genotype
MGI:3715828

cx13

• Allelic Composition: Cdh23^v/Cdh23^v; Myo7a^4626SB/Myo7a⁺
• Genetic Background: mixed

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:108877 )

• identical to Cdh23^v/Cdh23^v

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:108877 )

• identical to Cdh23^v/Cdh23^v