Ptpn11^tm6Bgn
Targeted Allele Detail

Summary

• Symbol: Ptpn11^tm6Bgn
• Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 6, Benjamin Neel
• MGI ID: MGI:3840248
• Synonyms: inDY, Ptpn11^inD61Y, Ptpn11^tm1Toa
• Gene: Ptpn11 Location: Chr5:121268596-121329460 bp, - strand Genetic Position: Chr5, 61.72 cM, cytoband F
• Alliance: Ptpn11^tm6Bgn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:147154
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A cassette consisting of a loxP site, neo, loxP site, stop signal, and a third loxP site was inserted into intron 2 and a D61Y mutation was inserted into exon 3 via homologous recombination. (J:147154, J:148430)

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Ptpn11 Mutation: 46 strains or lines available

References

• Original: J:147154 Araki T, et al., Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. Proc Natl Acad Sci U S A. 2009 Mar 24;106(12):4736-41
• All: 11 reference(s)