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Pdgfratm13Sor
Targeted Allele Detail
Nomenclature
Symbol: Pdgfratm13Sor
Name: platelet derived growth factor receptor, alpha polypeptide; targeted mutation 13, Philippe Soriano
MGI ID: MGI:3838510
Synonyms: PDGFRalpha(S)J
Gene: Pdgfra  Location: Chr5:75312953-75358876 bp, + strand  Genetic Position: Chr5, 39.55 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:146617
Parent Cell Line:  AK7 (ES Cell)
Strain of Origin:  129S4/SvJaeSor
Mutation
description
Allele Type:    Targeted (Conditional ready, Constitutively active, Humanized sequence)
Mutations:    Insertion, Intragenic deletion, Nucleotide substitutions
 
Mutation detailsExons 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. (J:146617)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pdgfra Mutation:  58 strains or lines available
References
Original:  J:146617 Olson LE, et al., Increased PDGFRalpha activation disrupts connective tissue development and drives systemic fibrosis. Dev Cell. 2009 Feb;16(2):303-13
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory