Pdgfra^tm13Sor
Targeted Allele Detail

Summary

• Symbol: Pdgfra^tm13Sor
• 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
• Alliance: Pdgfra^tm13Sor page

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 details: 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. (J:146617)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 88 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)