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Myo7a816SB
Chemically induced Allele Detail
Summary
Symbol: Myo7a816SB
Name: myosin VIIA; shaker 816SB
MGI ID: MGI:2155423
Synonyms: Myo7ash1-2R, sh1816SB, sh1OR-816SB
Gene: Myo7a  Location: Chr7:97700267-97768731 bp, - strand  Genetic Position: Chr7, 53.57 cM
Alliance: Myo7a816SB page
Mutation
origin
Strain of Origin:  BALB/cRl
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutations:    Insertion, Inversion
 
Mutation detailsA 16 nt inversion and substitution of two A nucleotides with a single G resulted in a deletion of ten amino acids in the encoded protein. This mutation is predicted to lie in the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that approximately 63% of the normal level of the protein was expressed. (J:49926)
Inheritance:    Recessive
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1  Disease Model
involves: BALB/cRl
 
hm2  Disease Model
involves: BALB/cRl * 47BS/Rl
 
Phenotypes:
Affected Systems
show or hide all annotated terms
   
hearing/vestibular/ear
abnormal hair cell morphology
abnormal cochlear hair cell stereociliary bundle morphology
abnormal orientation of cochlear hair cell stereociliary bundles
abnormal hearing physiology
absent cochlear microphonics
abnormal auditory summating potential
nervous system
abnormal hair cell morphology
abnormal cochlear hair cell stereociliary bundle morphology
abnormal orientation of cochlear hair cell stereociliary bundles
absent cochlear microphonics
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
hm1
hm2
IDs
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  118 strains or lines available
References
Original:  J:10283 Rinchik EM, et al., A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis. Proc Natl Acad Sci U S A. 1990 Feb;87(3):896-900
All:  7 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)
Citing These Resources
Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory

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