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Jak2tm1.1Jlvl
Targeted Allele Detail
Summary
Symbol: Jak2tm1.1Jlvl
Name: Janus kinase 2; targeted mutation 1.1, Jean-Luc Villeval
MGI ID: MGI:4829538
Synonyms: Jak2V617F
Gene: Jak2  Location: Chr19:29229228-29290480 bp, + strand  Genetic Position: Chr19, 23.73 cM
Alliance: Jak2tm1.1Jlvl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:163497
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 13 was replaced with one in which a G to T mutation results in an amino acid substitution of phenylalanine for valine at position 617 (V617F). An FRT flanked neo cassette downstream of the modified exon was removed by flp mediated recombination. (J:163497)
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:163497 Marty C, et al., Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. Blood. 2010 Aug 5;116(5):783-7
All:  4 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
10/29/2024
MGI 6.24
The Jackson Laboratory