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Targeted Allele Detail
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.

Germline Transmission:  Earliest citation of germline transmission: J:172033
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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
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
MGI 6.11
The Jackson Laboratory