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Allele : Pdgfra<tm13Sor> platelet derived growth factor receptor, alpha polypeptide; targeted mutation 13, Philippe Soriano

Primary Identifier  MGI:3838510 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 aspartic acid for valine at position 561 (V561D) 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 disrupting the inhibitory conotacts between the juxtamembrane and kinase domain. Removal of the floxed neo-STOP cassette is necessary to achieve expression.
  • mutations:
  • Intragenic deletion,
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • PDGFRalpha<(S)J>,
  • PDGFRalpha<(S)J>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

7 Publication categories