Itga2b^tm1.1Hirka
Targeted Allele Detail

Summary

• Symbol: Itga2b^tm1.1Hirka
• Name: integrin alpha 2b; targeted mutation 1.1, Hirokazu Kashiwagi
• MGI ID: MGI:7579164
• Synonyms: alphaIIb(R990W)
• Gene: Itga2b Location: Chr11:102344134-102360570 bp, - strand Genetic Position: Chr11, 66.29 cM
• Alliance: Itga2b^tm1.1Hirka page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342725
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 30 was replaced with one where arginine codon 1021 (CGG) was changed to tryptophan (TGG) (p.R1021W), and a loxP site flanked neomycin resistance gene cassette was inserted downstream of the gene. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human p.R995 mutation, associated with macrothrombocytopenia, that renders the encoded peptide constitutively active. (J:342725)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Itga2b Mutation: 45 strains or lines available

References

• Original: J:342725 Akuta K, et al., Knock-in mice bearing constitutively active alphaIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction. J Thromb Haemost. 2020 Feb;18(2):497-509
• All: 1 reference(s)