Ptpn22^tm1.1Draw
Targeted Allele Detail

Summary

• Symbol: Ptpn22^tm1.1Draw
• Name: protein tyrosine phosphatase, non-receptor type 22 (lymphoid); targeted mutation 1.1, David Rawlings
• MGI ID: MGI:5516594
• Synonyms: PEP-R619W, Ptpn22^R
• Gene: Ptpn22 Location: Chr3:103767111-103819563 bp, + strand Genetic Position: Chr3, 45.52 cM, cytoband F3
• Alliance: Ptpn22^tm1.1Draw page

Spectrum of lesions in aged Ptpn22^tm1.1Draw/Ptpn22^tm1.1Draw mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:201448
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Intragenic deletion, Single point mutation Mutation details: Exon 14 was replaced by a modified exon 14 in which a point mutation (C to T) results in the amino acid substitution of a tryptophan for arginine at position 619 (R619W). The mutation is analogous to the human disease-linked variant (LYP-R620W). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modifies exon 14. Western blot analysis confirmed normal protein stability. (J:201448)

Generation of the Ptpn22^tm1.1Draw allele

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Ptpn22 Mutation: 51 strains or lines available

References

• Original: J:201448 Dai X, et al., A disease-associated PTPN22 variant promotes systemic autoimmunity in murine models. J Clin Invest. 2013 May 1;123(5):2024-36
• All: 8 reference(s)