Allele/Variant

Stim1tm3Ics

Species
Mus musculus
Symbol
Stim1tm3Ics
Category
allele
Allele of gene
Stim1
Transgenic Constructs
None
Synonyms
  • Stim1R304W
Description
Arginine codon 304 (AGG) in exon 7 was changed to tryptophan (TGG) (c.910A>T:p.R304W). A loxP site, an FRT site flanked protamine-cre cassette, a neomycin resistance gene cassette and a second loxP site were inserted in opposite transcriptional orientation into intron 7. The floxed cre plus neo cassette pair was self-excised in male germline through the protamine promotor-driven expression of Cre. The mutation is the equivalent of the same human mutation associated with tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
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