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| Nomenclature |
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Symbol:
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Ptpn22tm1.1Kas
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Name:
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protein tyrosine phosphatase, non-receptor type 22 (lymphoid);
targeted mutation 1.1, Katherine A Siminovitch
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MGI ID: |
MGI:5294241 |
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Synonyms: |
Pep619W |
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Gene:
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Ptpn22
Location:
Chr3:103859795-103912247 bp, + strand
Genetic Position: Chr3,
45.52 cM, cytoband F3
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Mutation
origin |
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Germline Transmission:
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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:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ptpn22 Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
