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Ptpn22tm1.1Kas
Targeted Allele Detail
Nomenclature
Symbol: Ptpn22tm1.1Kas
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: Chr3:103859795-103912247 bp, + strand  Genetic Position: Chr3, 45.52 cM, cytoband F3
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
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 14 was replaced with one in which a T to C transition (c.1967YC>T) results in the amino acid substitution of tryptophan for arginine at position 619 (T619W). Cre-mediated recombination removed the floxed neo cassette upstream of the modified exon. (J:176519)
Phenotypes
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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:  6 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/25/2015
MGI 5.21
The Jackson Laboratory