Ptpn11^tm4.2Bgn
Targeted Allele Detail

Summary

• Symbol: Ptpn11^tm4.2Bgn
• Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 4.2, Benjamin G Neel
• MGI ID: MGI:5004658
• Synonyms: Ptpn11^LS, Ptpn11^Y279C
• Gene: Ptpn11 Location: Chr5:121268596-121329460 bp, - strand Genetic Position: Chr5, 61.72 cM, cytoband F
• Alliance: Ptpn11^tm4.2Bgn page

Ptpn11^tm4.2Bgn/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 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 in Leopard syndrome. (J:172033)

Generation of the Ptpn11^tm4.2Bgn allele

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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: 46 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: 9 reference(s)