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Ptpn11tm1Bgn
Targeted Allele Detail
Summary
Symbol: Ptpn11tm1Bgn
Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 1, Benjamin G Neel
MGI ID: MGI:3050284
Synonyms: Ptpn11D61G
Gene: Ptpn11  Location: Chr5:121268596-121329460 bp, - strand  Genetic Position: Chr5, 61.72 cM, cytoband F
Alliance: Ptpn11tm1Bgn 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory