Phenotypes associated with this allele
Allelic
Composition |
Myo7a4626SB/Myo7a4626SB
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Genetic
Background |
involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation
(3 available);
any
Myo7a mutation
(75 available)
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hearing/vestibular/ear
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• 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
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nervous system
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• 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
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation
(3 available);
any
Myo7a mutation
(75 available)
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hearing/vestibular/ear
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• lateral links that connect stereocilia to each other are sparse and frequently disrupted
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• ankle links are not present in P5 mice
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• 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
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• 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
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• 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
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• 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)
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• starting at P5 the short and medium rows of the stereocillia start regressing and dissappear by P15
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• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further
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nervous system
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• lateral links that connect stereocilia to each other are sparse and frequently disrupted
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• ankle links are not present in P5 mice
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• 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
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• 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
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• 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
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• 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)
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• starting at P5 the short and medium rows of the stereocillia start regressing and dissappear by P15
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• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further
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Allelic
Composition |
Myo7a4626SB/Myo7a4626SB
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Genetic
Background |
involves: BALB/cRl * 47BS/Rl * C3Hf/Rl * C57BL/10Rl * CBA/Ca |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation
(3 available);
any
Myo7a mutation
(75 available)
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hearing/vestibular/ear
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• disorganized compared to control, similar to homozygous Cdh23v
• the apical surface of stereocilia on OHCs show indentations unlike homozygous Cdh23v
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nervous system
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• disorganized compared to control, similar to homozygous Cdh23v
• the apical surface of stereocilia on OHCs show indentations unlike homozygous Cdh23v
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Allelic
Composition |
Myo7a4626SB/Myo7a+
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Genetic
Background |
involves: BALB/cRl * 47BS/Rl * CBA/Ca |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7a4626SB mutation
(3 available);
any
Myo7a mutation
(75 available)
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hearing/vestibular/ear
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• 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)
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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• elevated CAP thresholds indicate hearing loss
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nervous system
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• 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)
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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Allelic
Composition |
Myo7aHdb/Myo7a4626SB
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Genetic
Background |
involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca |
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Cochlear hair cell abnormalities in Myo7aHdb/Myo7a+, Myo7aHdb/Myo7a+ Myo7a4626SB/Myo7a+, and Myo7ash1/Myo7ash1 mice
hearing/vestibular/ear
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• apical stereocilia bundles of inner hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes
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• inner hair cell fusion was significantly reduced compared to that seen in Hdb homozygotes but not when compared to Hdb heterozygotes
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• apical stereocilia bundles of outer hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes
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nervous system
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• apical stereocilia bundles of inner hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes
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• inner hair cell fusion was significantly reduced compared to that seen in Hdb homozygotes but not when compared to Hdb heterozygotes
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• apical stereocilia bundles of outer hair cells appeared more disorganized than in Hdb heterozygotes but less than in Hdb homozygotes
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hearing/vestibular/ear
 N |
• mice do not exhibit circling or head bobbing and have normal hair cells
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1tm3Brd mutation
(0 available);
any
Hprt1 mutation
(1274 available)
Myo7a4626SB mutation
(3 available);
any
Myo7a mutation
(75 available)
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hearing/vestibular/ear
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N |
• mice do not exhibit circling or head bobbing and have normal hair cells
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vision/eye
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N |
• no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected
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• 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
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Allelic
Composition |
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
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Genetic
Background |
involves: BALB/cRl * 47BS/Rl * CBA/Ca |
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hearing/vestibular/ear
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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nervous system
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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hearing/vestibular/ear
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• identical to Cdh23v/Cdh23v
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nervous system
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• identical to Cdh23v/Cdh23v
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hearing/vestibular/ear
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• identical to Myo7a4626SB/ Myo7a4626SB
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nervous system
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• identical to Myo7a4626SB/ Myo7a4626SB
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hearing/vestibular/ear
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• identical to Myo7a4626SB/ Myo7a4626SB
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nervous system
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• identical to Myo7a4626SB/ Myo7a4626SB
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hearing/vestibular/ear
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• 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
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behavior/neurological
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• 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
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hearing/vestibular/ear
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• 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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behavior/neurological
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• 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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Analysis Tools