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Ptpn11tm4.2Bgn
Targeted Allele Detail
Nomenclature
Symbol: Ptpn11tm4.2Bgn
Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 4.2, Benjamin G Neel
MGI ID: MGI:5004658
Synonyms: Ptpn11LS, Ptpn11Y279C
Gene: Ptpn11  Location: Chr5:121130533-121191397 bp, - strand  Genetic Position: Chr5, 61.72 cM, cytoband F
Ptpn11tm4.2Bgn/Ptpn11+ mice demonstrate phenotypic abnormalities similar to those in human Leopard syndrome (LS)

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:172033
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA 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 in Leopard syndrome. (J:172033)
Generation of the Ptpn11tm4.2Bgn allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ptpn11 Mutation:  31 strains or lines available
References
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
All:  5 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
06/12/2018
MGI 6.12
The Jackson Laboratory