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Myo7ash1-6J
Spontaneous Allele Detail
Nomenclature
Symbol: Myo7ash1-6J
Name: myosin VIIA; shaker 1, 6 Jackson
MGI ID: MGI:1860092
Synonyms: Myo7a6J, sh6J
Gene: Myo7a  Location: Chr7:97700267-97768731 bp, - strand  Genetic Position: Chr7, 53.57 cM
Mutation
origin
Strain of Origin:  BKS.Cg-Dock7m Leprdb
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-C transversion mutation results in an arginine to proline change at position 241 in the encoded protein (p.R241P). This mutation lies within the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that approximately 20% of the normal level of the protein was expressed. (J:23257)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Myo7a Mutation:  76 strains or lines available
References
Original:  J:17340 Letts VA, et al., Remutation at the shaker-1 locus. Mouse Genome. 1994;92(1):116
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory