Ptpn11tm1.1Ics
Targeted Allele Detail
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Symbol: |
Ptpn11tm1.1Ics |
Name: |
protein tyrosine phosphatase, non-receptor type 11; targeted mutation 1.1, Mouse Clinical Institute |
MGI ID: |
MGI:5639081 |
Synonyms: |
Ptpn11T468M |
Gene: |
Ptpn11 Location: Chr5:121268596-121329460 bp, - strand Genetic Position: Chr5, 61.72 cM, cytoband F
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Alliance: |
Ptpn11tm1.1Ics page
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Germline Transmission: |
Earliest citation of germline transmission:
J:216593
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Parent Cell Line: |
P1 (ES Cell)
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Strain of Origin: |
129S2/SvPas
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: A point mutation (ACC>ATG) was introduced by site-directed mutagenesis into exon 12 at position 4847 resulting in the amino acid substitution of methionine for threonine (T468M) and a floxed neomycin cassette was inserted within the following intron. Cre-mediated recombination removed the neomycin cassette. The amino acid substitution is a common mutation in Leopard syndrome.
(J:216593)
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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 Ptpn11 Mutation: |
43 strains or lines available
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Original: |
J:216593 Tajan M, et al., LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4494-503 |
All: |
2 reference(s) |
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