|
|
| Nomenclature |
|
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:
Chr5:121130533-121191397 bp, - strand
Genetic Position: Chr5,
61.72 cM, cytoband F
|
|
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 (knock-in) |
|
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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
6 reference(s)
|
|