- decreased lean body mass / IMPC
- abnormal locomotor activation / IMPC
- trunk curl / IMPC
- persistence of hyaloid vascular system / IMPC
- absent pinna reflex / IMPC
- increased lean body mass / IMPC
- impaired righting response / IMPC
- increased blood urea nitrogen level / IMPC
- increased total body fat amount / IMPC
- decreased body weight / IMPC
- increased thermal nociceptive threshold / IMPC
- abnormal bone mineralization / IMPC
- increased bone mineral content / IMPC
- decreased body length / IMPC
- abnormal behavior / IMPC
- decreased bone mineral density / IMPC
- increased circulating sodium level / IMPC
- stereotypic behavior / IMPC
STOCK Myo7a816SB/NihrH
Status | Available to order |
EMMA ID | EM:00428 |
International strain name | STOCK Myo7a816SB/NihrH |
Alternative name | Myo7a |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Myo7a816SB |
Gene/Transgene symbol | Myo7a |
Information from provider
Provider | Karen Steel |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | This mutation can also be identified by genotyping. See Self et al. (1998) Development, vol 125, 557-566. |
Phenotypic information | Mice homozygous for this mutation exhibit almost constant circling behaviour and show no Preyer reflex. Heterozygotes and wild-types are indistinguishable. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 1 / Orphanet_231169
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Usher syndrome type 2 / Orphanet_231178
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal inner ear vestibule morphology / MGI
- abnormal organ of Corti morphology / MGI
- abnormal hair cell morphology / MGI
- abnormal head movements / MGI
- abnormal retinal rod cell morphology / MGI
- pigmentation phenotype / MGI
- decreased body size / MGI
- increased anxiety-related response / MGI
- circling / MGI
- hyperactivity / MGI
- abnormal gait / MGI
- head bobbing / MGI
- decreased startle reflex / MGI
- trunk curl / MGI
- impaired swimming / MGI
- impaired balance / MGI
- reduced male fertility / MGI
- male infertility / MGI
- abnormal hearing physiology / MGI
- deafness / MGI
- abnormal parental behavior / MGI
- gliosis / MGI
- abnormal cochlear hair cell morphology / MGI
- head shaking / MGI
- cochlear ganglion degeneration / MGI
- no phenotypic analysis / MGI
- straub tail / MGI
- abnormal ear physiology / MGI
- vestibular saccular macula degeneration / MGI
- cochlear hair cell degeneration / MGI
- stria vascularis degeneration / MGI
- abnormal cochlear outer hair cell morphology / MGI
- decreased cochlear outer hair cell number / MGI
- cochlear outer hair cell degeneration / MGI
- absent cochlear microphonics / MGI
- abnormal cochlear nerve compound action potential / MGI
- short cochlear outer hair cells / MGI
- abnormal orientation of outer hair cell stereociliary bundles / MGI
- abnormal orientation of inner hair cell stereociliary bundles / MGI
- abnormal vestibular hair cell stereociliary bundle morphology / MGI
- decreased vestibular hair cell stereocilia number / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- abnormal orientation of cochlear hair cell stereociliary bundles / MGI
- short cochlear hair cell stereocilia / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- decreased outer hair cell stereocilia number / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- fused inner hair cell stereocilia / MGI
- decreased inner hair cell stereocilia number / MGI
- abnormal cochlear hair cell inter-stereocilial links morphology / MGI
- absent cochlear hair bundle ankle links / MGI
- abnormal cochlear basement membrane morphology / MGI
- abnormal cochlear OHC efferent innervation pattern / MGI
- absent distortion product otoacoustic emissions / MGI
- increased susceptibility to age-related hearing loss / MGI
- increased cochlear nerve compound action potential / MGI
- absent linear vestibular evoked potential / MGI
- abnormal behavior / MGI
- head tilt / MGI
- abnormal retinal pigment epithelium morphology / MGI
- head tossing / MGI
- hearing/vestibular/ear phenotype / MGI
- jerky movement / MGI
- impaired hearing / MGI
- absent pinna reflex / MGI
- absent startle reflex / MGI
- abnormal auditory summating potential / MGI
- vestibular ganglion hypoplasia / MGI
- retinal rod cell degeneration / MGI
- slow postnatal weight gain / MGI
- retropulsion / MGI
- increased food intake / MGI
- increased fluid intake / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells.;Self T, Mahony M, Fleming J, Walsh J, Brown S D, Steel K P, ;1998;Development (Cambridge, England);125;557-66; 9435277
- Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression.;Hasson T, Walsh J, Cable J, Mooseker M S, Brown S D, Steel K P, ;1997;Cell motility and the cytoskeleton;37;127-38; 9186010
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