Allele/Variant

Myo7a4494SB

Species
Mus musculus
Symbol
Myo7a4494SB
Category
allele
Allele of gene
Myo7a
Transgenic Constructs
None
Synonyms
  • Myo7ash1-4R
  • sh14494SB
Description
A small 6 nt inversion and substitution of two T nucleotides with a single A resulted in a frameshift and introduction of a stop codon 5 amino acids downstream 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 less than 1% of the normal level of the protein was expressed.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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