Allele/Variant

Kittm2Bsm

Species
Mus musculus
Symbol
Kittm2Bsm
Category
allele
Allele of gene
Kit
Transgenic Constructs
None
Synonyms
  • KitV558delta
Description
A single point mutation deleting valine 558 was introduced to exon 11 and a floxed neo cassette was introduced to intron 9 via homologous recombination. This point mutation mimics a valine 559 deletion found in a case of human somatic gastrointestinal stromal tumor (GIST). The floxed neo cassette was subsequently removed by mating mutant animals to cre deleter strain TgN(EIIa-cre)C5379Lmgd. The integrity of the V558 deletion was confirmed by DNA sequence analysis.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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