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Ptpn11tm1Ckq
Targeted Allele Detail
Nomenclature
Symbol: Ptpn11tm1Ckq
Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 1, Cheng-Kui Qu
MGI ID: MGI:5295460
Synonyms: Ptpn11E76Kneo
Gene: Ptpn11  Location: Chr5:121130533-121191397 bp, - strand  Genetic Position: Chr5, 61.72 cM, cytoband F
Embryonic lethality in Ptpn11tm1Ckq/Ptpn11+ Hprttm1(CAG-cre)Mnn/Hprt+ mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:177285
Parent Cell Line:  D1 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6J)F1
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 3 was replaced with a floxed neo/STOP cassette and a modified exon 3 in which nucleotide substitution (GAA to AAA) results in the amino acid substitution of lysine for glutamic acid at position 76 (E76K), mimicking a mutation found in some childhood acute leukemia and juvenile myelomonocytic leukemia (JMML) patients. This allele remains inactive until deletion of the neo cassette through cre-mediated recombination. (J:177285)
Generation of the Ptpn11tm1Ckq allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ptpn11 Mutation:  11 strains or lines available
References
Original:  J:177285 Xu D, et al., Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells. J Exp Med. 2011 Sep 26;208(10):1977-88
All:  11 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)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory