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| Nomenclature |
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Symbol:
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Ptpn11tm4.2Bgn
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Name:
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protein tyrosine phosphatase, non-receptor type 11;
targeted mutation 4.2, Benjamin G Neel
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MGI ID: |
MGI:5004658 |
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Synonyms: |
Ptpn11LS, Ptpn11Y279C |
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Gene:
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Ptpn11
Location:
Chr5:121130533-121191397 bp, - strand
Genetic Position: Chr5,
61.72 cM, cytoband F
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:172033
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A loxP site was inserted upstream of exon 7. An inverted modified exon 7 with a nucleotide substitutions that result in the amino acid substitution of cysteine for tyrosine at position 279 (Y279C) with a 5' loxP site was flanked by loxP511 sites and inserted downstream of exon 7 along with an FRT flanked neo cassette. Flp-mediated recombination removed the neo cassette, and cre-mediated recombination removed the endogenous exon 7 and reverted the orientation of the modified exon 7. The amino acid substitution is one of the two most common mutations Leopard syndrome. (J:172033)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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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 Ptpn11 Mutation:
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20 strains or lines available |
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| References |
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Original: |
J:172033
Marin TM et al.,
"Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation."
J Clin Invest 2011 Mar 1;121(3):1026-43
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All: |
1 reference(s)
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Analysis Tools
