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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Myo7a4626SB
shaker 4626SB
MGI:2155422
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Myo7a4626SB/Myo7a4626SB involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca MGI:3810336
hm2
 		Myo7a4626SB/Myo7a4626SB involves: BALB/cRl MGI:3796328
hm3
 		Myo7a4626SB/Myo7a4626SB involves: BALB/cRl * 47BS/Rl * C3Hf/Rl * C57BL/10Rl * CBA/Ca MGI:3715827
ht4
 		Myo7a4626SB/Myo7a+ involves: BALB/cRl * 47BS/Rl * CBA/Ca MGI:3789071
ht5
 		Myo7aHdb/Myo7a4626SB involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca MGI:3511901
cx6
 		Hprt1tm2Brd/Hprt1+
Myo7a4626SB/Myo7a4626SB 		involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca MGI:3810333
cx7
 		Hprt1tm3Brd/Hprt1+
Myo7a4626SB/Myo7a4626SB 		involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca MGI:3810334
cx8
 		Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB 		involves: 47BS/Rl * CBA/Ca MGI:3715003
cx9
 		Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+ 		involves: BALB/cRl * 47BS/Rl * CBA/Ca MGI:3789073
cx10
 		Cdh23v/Cdh23v
Myo7a4626SB/Myo7a+ 		mixed MGI:3715828
cx11
 		Cdh23v/Cdh23+
Myo7a4626SB/Myo7a4626SB 		mixed MGI:3715829
cx12
 		Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB 		mixed MGI:3715830
cx13
 		Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+ 		mixed MGI:3715833
cx14
 		Cdh23v-2J/Cdh23+
Myo7a4626SB/Myo7a+ 		mixed MGI:3715834


Genotype
MGI:3810336
hm1
Allelic
Composition		 Myo7a4626SB/Myo7a4626SB
Genetic
Background		 involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal cochlear hair cell stereociliary bundle morphology ( J:132633 )
• stereocilia of the lateral rows are longer than in complimented mice (Hprt1tm3Brd/Hprt1+ Myo7a4626SB/ Myo7a4626SB)
• however, treatment with cytochalasin decreases the difference between stereocilia length

nervous system
abnormal cochlear hair cell stereociliary bundle morphology ( J:132633 )
• stereocilia of the lateral rows are longer than in complimented mice (Hprt1tm3Brd/Hprt1+ Myo7a4626SB/ Myo7a4626SB)
• however, treatment with cytochalasin decreases the difference between stereocilia length




Genotype
MGI:3796328
hm2
Allelic
Composition		 Myo7a4626SB/Myo7a4626SB
Genetic
Background		 involves: BALB/cRl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal cochlear hair cell inter-stereocilial links morphology ( J:135991 )
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
absent cochlear hair bundle ankle links ( J:135991 )
• ankle links are not present in P5 mice
abnormal inner hair cell stereociliary bundle morphology ( J:135991 )
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
abnormal orientation of cochlear hair cell stereociliary bundles ( J:135991 )
• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 36% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 26 degrees compared to 8 degrees in wild-type mice
abnormal cochlear outer hair cell morphology ( J:158897 )
• at P5, outer hair cell fold angle peaks at zero degrees indicating no detectable concavity unlike in wild-type mice
• the contour of the cuticular plate remains convex unlike in wild-type mice
• outer hair cells exhibit a slight flattening of their neural and abneural sides compared to in wild-type mice
abnormal outer hair cell stereociliary bundle morphology ( J:135991 , J:158897 )
• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)
• bundles are fragmented compared to in wild-type mice (J:158897)
cochlear outer hair cell degeneration ( J:135991 )
• starting at P5 the short and medium rows of the stereocillia start regressing and dissappear by P15
short cochlear outer hair cells ( J:135991 )
• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further

nervous system
abnormal cochlear hair cell inter-stereocilial links morphology ( J:135991 )
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
absent cochlear hair bundle ankle links ( J:135991 )
• ankle links are not present in P5 mice
abnormal inner hair cell stereociliary bundle morphology ( J:135991 )
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
abnormal orientation of cochlear hair cell stereociliary bundles ( J:135991 )
• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 36% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 26 degrees compared to 8 degrees in wild-type mice
abnormal cochlear outer hair cell morphology ( J:158897 )
• at P5, outer hair cell fold angle peaks at zero degrees indicating no detectable concavity unlike in wild-type mice
• the contour of the cuticular plate remains convex unlike in wild-type mice
• outer hair cells exhibit a slight flattening of their neural and abneural sides compared to in wild-type mice
abnormal outer hair cell stereociliary bundle morphology ( J:135991 , J:158897 )
• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)
• bundles are fragmented compared to in wild-type mice (J:158897)
cochlear outer hair cell degeneration ( J:135991 )
• starting at P5 the short and medium rows of the stereocillia start regressing and dissappear by P15
short cochlear outer hair cells ( J:135991 )
• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further




Genotype
MGI:3715827
hm3
Allelic
Composition		 Myo7a4626SB/Myo7a4626SB
Genetic
Background		 involves: BALB/cRl * 47BS/Rl * C3Hf/Rl * C57BL/10Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal outer hair cell stereociliary bundle morphology ( J:108877 )
• disorganized compared to control, similar to homozygous Cdh23v
• the apical surface of stereocilia on OHCs show indentations unlike homozygous Cdh23v

nervous system
abnormal outer hair cell stereociliary bundle morphology ( J:108877 )
• disorganized compared to control, similar to homozygous Cdh23v
• the apical surface of stereocilia on OHCs show indentations unlike homozygous Cdh23v




Genotype
MGI:3789071
ht4
Allelic
Composition		 Myo7a4626SB/Myo7a+
Genetic
Background		 involves: BALB/cRl * 47BS/Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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:3511901
ht5
Allelic
Composition		 Myo7aHdb/Myo7a4626SB
Genetic
Background		 involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
Myo7aHdb mutation (1 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Cochlear hair cell abnormalities in Myo7aHdb/Myo7a+, Myo7aHdb/Myo7a+ Myo7a4626SB/Myo7a+, and Myo7ash1/Myo7ash1 mice

hearing/vestibular/ear
abnormal inner hair cell stereociliary bundle morphology ( J:93998 )
• apical stereocilia bundles of inner hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes
fused inner hair cell stereocilia ( J:93998 )
• inner hair cell fusion was significantly reduced compared to that seen in Hdb homozygotes but not when compared to Hdb heterozygotes
abnormal outer hair cell stereociliary bundle morphology ( J:93998 )
• apical stereocilia bundles of outer hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes

nervous system
abnormal inner hair cell stereociliary bundle morphology ( J:93998 )
• apical stereocilia bundles of inner hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes
fused inner hair cell stereocilia ( J:93998 )
• inner hair cell fusion was significantly reduced compared to that seen in Hdb homozygotes but not when compared to Hdb heterozygotes
abnormal outer hair cell stereociliary bundle morphology ( J:93998 )
• apical stereocilia bundles of outer hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Usher syndrome type 1 DOID:0110826 OMIM:276900
 J:93998




Genotype
MGI:3810333
cx6
Allelic
Composition		 Hprt1tm2Brd/Hprt1+
Myo7a4626SB/Myo7a4626SB
Genetic
Background		 involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1tm2Brd mutation (1 available); any Hprt1 mutation (1279 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:132633 )
N
• mice do not exhibit circling or head bobbing and have normal hair cells




Genotype
MGI:3810334
cx7
Allelic
Composition		 Hprt1tm3Brd/Hprt1+
Myo7a4626SB/Myo7a4626SB
Genetic
Background		 involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1tm3Brd mutation (0 available); any Hprt1 mutation (1279 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:132633 )
N
• mice do not exhibit circling or head bobbing and have normal hair cells




Genotype
MGI:3715003
cx8
Allelic
Composition		 Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB
Genetic
Background		 involves: 47BS/Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
vision/eye phenotype ( J:109546 )
N
• no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected
abnormal eye electrophysiology ( J:109546 )
• at 100-130 days of age, electroretinography analysis shows that double homozygous mice exhibit an attenuation of a- and b-wave amplitudes; however, this attenuation is not significantly different from the single homozygous mutant




Genotype
MGI:3789073
cx9
Allelic
Composition		 Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
Genetic
Background		 involves: BALB/cRl * 47BS/Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
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; Cdh23sv 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
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; Cdh23sv 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:3715828
cx10
Allelic
Composition		 Cdh23v/Cdh23v
Myo7a4626SB/Myo7a+
Genetic
Background		 mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear

nervous system




Genotype
MGI:3715829
cx11
Allelic
Composition		 Cdh23v/Cdh23+
Myo7a4626SB/Myo7a4626SB
Genetic
Background		 mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal outer hair cell stereociliary bundle morphology ( J:108877 )
• identical to Myo7a4626SB/ Myo7a4626SB

nervous system
abnormal outer hair cell stereociliary bundle morphology ( J:108877 )
• identical to Myo7a4626SB/ Myo7a4626SB




Genotype
MGI:3715830
cx12
Allelic
Composition		 Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB
Genetic
Background		 mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal outer hair cell stereociliary bundle morphology ( J:108877 )
• identical to Myo7a4626SB/ Myo7a4626SB

nervous system
abnormal outer hair cell stereociliary bundle morphology ( J:108877 )
• identical to Myo7a4626SB/ Myo7a4626SB




Genotype
MGI:3715833
cx13
Allelic
Composition		 Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
Genetic
Background		 mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
increased susceptibility to age-related hearing loss ( J:108877 )
• similar to Cdh23v 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 Cdh23v 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:3715834
cx14
Allelic
Composition		 Cdh23v-2J/Cdh23+
Myo7a4626SB/Myo7a+
Genetic
Background		 mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v-2J mutation (1 available); any Cdh23 mutation (281 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
increased susceptibility to age-related hearing loss ( J:108877 )
• similar to Cdh23v-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 Cdh23v-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




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Send questions and comments to User Support. 		last database update
11/12/2024
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