Ptpn22^tm1.1Kas
Targeted Allele Detail

Summary

• Symbol: Ptpn22^tm1.1Kas
• Name: protein tyrosine phosphatase, non-receptor type 22 (lymphoid); targeted mutation 1.1, Katherine A Siminovitch
• MGI ID: MGI:5294241
• Synonyms: Pep619W
• Gene: Ptpn22 Location: Chr3:103767111-103819563 bp, + strand Genetic Position: Chr3, 45.52 cM, cytoband F3
• Alliance: Ptpn22^tm1.1Kas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:176519
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 14 was replaced with one in which a C to T transition (c.1967C>T) results in the amino acid substitution of tryptophan for arginine at position 619 (R619W). Cre-mediated recombination removed the floxed neo cassette upstream of the modified exon. (J:176519)

Expression

In Structures Affected by this Mutation:

4 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:176519 Zhang J, et al., The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nat Genet. 2011 Sep;43(9):902-7
• All: 1 reference(s)