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Jak2tm1(JAK2)Argr
Targeted Allele Detail
Summary
Symbol: Jak2tm1(JAK2)Argr
Name: Janus kinase 2; targeted mutation 1, Anthony R Green
MGI ID: MGI:4836590
Synonyms: JAK2F, JAK2V617F
Gene: Jak2  Location: Chr19:29229228-29290480 bp, + strand  Genetic Position: Chr19, 23.73 cM
Alliance: Jak2tm1(JAK2)Argr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:164539
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA floxed neo stop cassette and a modified human cDNA with nucleotide substitutions that results in the amino acid substitution of phenylalanine for valine at position 617 (V617F) were inserted into exon 2. (J:164539)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
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 Jak2 Mutation:  59 strains or lines available
References
Original:  J:164539 Li J, et al., JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. Blood. 2010 Sep 2;116(9):1528-38
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
11/12/2024
MGI 6.24
The Jackson Laboratory