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Phenotypes Associated with This Genotype
Genotype
MGI:2449164
Allelic
Composition
Myo7ash1/Myo7ash1
Genetic
Background
involves: BALB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo7ash1 mutation (4 available); any Myo7a mutation (33 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

behavior/neurological
• when placed on a cold concrete floor mice rarely travel more than 6 feet and this distance is covered in short jerky stops and starts (J:15554)
• when placed on a cold concrete floor mice rarely travel more than 6 feet and this distance is covered in short jerky stops and starts (J:15554)
• water consumption is increased compared to in wild-type mice (J:15554)
• water consumption is increased compared to in wild-type mice (J:15554)
• by 22 days (J:14858)
• by 22 days (J:14858)
• while mice can swim at a young age their lose their ability to do so in the second month of age (J:13130)
• while mice can swim at a young age their lose their ability to do so in the second month of age (J:13130)
• mice display a nervous head movement characterized by rapid, successive jerking of the head upwards accompanied by sniffing and twitching of the vibrissae (J:15554)
• however, mice can cease their head jerking for periods of time and appear normal (J:15554)
• mice display a nervous head movement characterized by rapid, successive jerking of the head upwards accompanied by sniffing and twitching of the vibrissae (J:15554)
• however, mice can cease their head jerking for periods of time and appear normal (J:15554)
• 14% of mice exhibit a moderate circling behavior with a tendency to circle counter-clockwise (J:15554)
• 14% of mice exhibit a moderate circling behavior with a tendency to circle counter-clockwise (J:15554)

growth/size/body

hearing/vestibular/ear
• formation of fluid spaces is delayed with no tunnel spaces evident until day 12 and intercellular spaces between hair cells not apparent until day 21 (J:14846)
• formation of fluid spaces is delayed with no tunnel spaces evident until day 12 and intercellular spaces between hair cells not apparent until day 21 (J:14846)
• maturation of the organ of Corti is delayed as indicated by the presence of round or ovoid shaped outer hair cells at day 10 and deformation of Nuel's spaces and the tunnel of Corti (J:28477)
• by day 18 Nuel's spaces have not formed and the tectorial membrane remains attached to the reticular lamina (J:28477)
• maturation of the organ of Corti is delayed as indicated by the presence of round or ovoid shaped outer hair cells at day 10 and deformation of Nuel's spaces and the tunnel of Corti (J:28477)
• by day 18 Nuel's spaces have not formed and the tectorial membrane remains attached to the reticular lamina (J:28477)
• the intercellular spaces that appear between hair cells occur at day 21 instead of day 10 as in wild-type mice (J:14846)
• efferent nerve innervation does not occur until day 12 compared to day 10 in wild-type mice and only a small number can be found (J:14846)
• mitochondrial swelling and vesicle formation are observed in both afferent and efferent nerve endings as mice age (J:14846)
• no auditory hair cells can be found between the level of the reticular lamina and the tectorial membrane (J:14846)
• the intercellular spaces that appear between hair cells occur at day 21 instead of day 10 as in wild-type mice (J:14846)
• efferent nerve innervation does not occur until day 12 compared to day 10 in wild-type mice and only a small number can be found (J:14846)
• mitochondrial swelling and vesicle formation are observed in both afferent and efferent nerve endings as mice age (J:14846)
• no auditory hair cells can be found between the level of the reticular lamina and the tectorial membrane (J:14846)
• efferent arrival at the outer hair cell is delayed (J:28477)
• however, efferent nerve supply to the inner hair cells is normal if not over-abundant (J:28477)
• efferent arrival at the outer hair cell is delayed (J:28477)
• however, efferent nerve supply to the inner hair cells is normal if not over-abundant (J:28477)
• degeneration of the hair cells occurs at 7 weeks of age (J:13130)
• degeneration of the hair cells occurs at 7 weeks of age (J:13130)
• hair cells are absent in adult mice (J:14846)
• hair cell degeneration is apparent as early as 12 days (J:14846)
• hair cells are absent in adult mice (J:14846)
• hair cell degeneration is apparent as early as 12 days (J:14846)
• by 4 months (J:14858)
• by 4 months (J:14858)
• by 4 months, the stria vascularis is atrophic (J:14858)
• by 4 months, the stria vascularis is atrophic (J:14858)
• at 21 days (J:13130)
• at 21 days (J:13130)
• cochlear potential is delayed by one day compared to in wild-type mice and mice do not respond to the full range of frequencies (J:14858)
• eighth nerve activity N1 and N2 is delayed and never obtain the amplitude that they do in wild-type mice (J:14858)
• by day 22, eighth nerve action potential has disappeared (J:14858)
• cochlear potential is delayed by one day compared to in wild-type mice and mice do not respond to the full range of frequencies (J:14858)
• eighth nerve activity N1 and N2 is delayed and never obtain the amplitude that they do in wild-type mice (J:14858)
• by day 22, eighth nerve action potential has disappeared (J:14858)
• by 22 days hearing is lost (J:14858)
• by 22 days hearing is lost (J:14858)
• mice become deaf at around 22 to 30 days (J:15554)
• mice become deaf at around 22 to 30 days (J:15554)

reproductive system
• males tend towards infertility because of their nervous condition (J:15554)
• males tend towards infertility because of their nervous condition (J:15554)

nervous system
• the intercellular spaces that appear between hair cells occur at day 21 instead of day 10 as in wild-type mice (J:14846)
• efferent nerve innervation does not occur until day 12 compared to day 10 in wild-type mice and only a small number can be found (J:14846)
• mitochondrial swelling and vesicle formation are observed in both afferent and efferent nerve endings as mice age (J:14846)
• no auditory hair cells can be found between the level of the reticular lamina and the tectorial membrane (J:14846)
• the intercellular spaces that appear between hair cells occur at day 21 instead of day 10 as in wild-type mice (J:14846)
• efferent nerve innervation does not occur until day 12 compared to day 10 in wild-type mice and only a small number can be found (J:14846)
• mitochondrial swelling and vesicle formation are observed in both afferent and efferent nerve endings as mice age (J:14846)
• no auditory hair cells can be found between the level of the reticular lamina and the tectorial membrane (J:14846)
• efferent arrival at the outer hair cell is delayed (J:28477)
• however, efferent nerve supply to the inner hair cells is normal if not over-abundant (J:28477)
• efferent arrival at the outer hair cell is delayed (J:28477)
• however, efferent nerve supply to the inner hair cells is normal if not over-abundant (J:28477)
• degeneration of the hair cells occurs at 7 weeks of age (J:13130)
• degeneration of the hair cells occurs at 7 weeks of age (J:13130)
• hair cells are absent in adult mice (J:14846)
• hair cell degeneration is apparent as early as 12 days (J:14846)
• hair cells are absent in adult mice (J:14846)
• hair cell degeneration is apparent as early as 12 days (J:14846)
• by 4 months (J:14858)
• by 4 months (J:14858)
• mice exhibit increases fibrous astrocytes in the medial vestibular nucleus (J:14891)
• mice exhibit increases fibrous astrocytes in the medial vestibular nucleus (J:14891)
• after 2 months (J:13130)
• after 2 months (J:13130)
• spiral ganglia formation is delayed and fewer spiral ganglia are present (J:14846)
• spiral ganglia formation is delayed and fewer spiral ganglia are present (J:14846)
• at 22 days, mice have few spiral ganglia that are irregular, small, show more chromatic stiplings and minimal vascuolization (J:14858)
• by 4 months, ganglion cells have atrophied (J:14858)
• at 22 days, mice have few spiral ganglia that are irregular, small, show more chromatic stiplings and minimal vascuolization (J:14858)
• by 4 months, ganglion cells have atrophied (J:14858)
• by day 10, spiral ganglion cells are unmyelinated and contain a large number of swollen mitochondria, dense bodies and an expanse of smooth endoplasmic reticulum (J:28477)
• by day 10, spiral ganglion cells are unmyelinated and contain a large number of swollen mitochondria, dense bodies and an expanse of smooth endoplasmic reticulum (J:28477)
• at 67 days (J:13130)
• at 67 days (J:13130)

Mouse Models of Human Disease
OMIM ID Ref(s)
Usher Syndrome, Type I; USH1 276900 J:5133 , J:15554


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory