Ptpn11^tm1Bgn
Targeted Allele Detail

Summary

• Symbol: Ptpn11^tm1Bgn
• Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 1, Benjamin G Neel
• MGI ID: MGI:3050284
• Synonyms: Ptpn11^D61G
• Gene: Ptpn11 Location: Chr5:121268596-121329460 bp, - strand Genetic Position: Chr5, 61.72 cM, cytoband F
• Alliance: Ptpn11^tm1Bgn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:91609
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A D61G mutation was introduced into exon 3 by homologous recombination, as well as a floxed PGK-neo in intron 3. Transient Cre expression excised the neo, leaving the aspartate to glycine codon substitution. Southern blotting confirmed recombination and Western blotting indicated that expression of the mutant allele was normal. (J:91609)

Disease models

Expression

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	9 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:91609 Araki T, et al., Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med. 2004 Aug;10(8):849-57
• All: 19 reference(s)