Ptpn22tm1.1Kas
Targeted Allele Detail
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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: Chr3:103767111-103819563 bp, + strand Genetic Position: Chr3, 45.52 cM, cytoband F3
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Alliance: |
Ptpn22tm1.1Kas page
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Germline Transmission: |
Earliest citation of germline transmission:
J:176519
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Ptpn22 Mutation: |
53 strains or lines available
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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) |
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