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Allele : Pdgfra<tm12Sor> platelet derived growth factor receptor, alpha polypeptide; targeted mutation 12, Philippe Soriano

Primary Identifier  MGI:3838504 Allele Type  Targeted
Attribute String  Conditional ready, Constitutively active, Humanized sequence Gene  Pdgfra
Transmission  Germline Strain of Origin  129S4/SvJaeSor
Is Recombinase  false Is Wild Type  false
molecularNote  Exons 2 through 4 were replaced with a cDNA of the gene with nucleotide substitutions that result in an amino acid substitution of valine for aspartic acid at position 842 (D842V) preceded by a floxed neo-STOP cassette. This mutation is found in human patients with gastrointestinal stromal tumors and leads to a constitutively active form by interfering with the inactive conformation of the ATP-binding pocket. Removal of the floxed neo-STOP cassette is necessary to achieve expression.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • PDGFRalpha<(S)K>,
  • PDGFRalpha<(S)K>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

11 Publication categories

Trail: Allele