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Jak1M1Mhda
Chemically induced Allele Detail
Summary
Symbol: Jak1M1Mhda
Name: Janus kinase 1; mutation 1, Martin Hrabe de Angelis
MGI ID: MGI:5526094
Synonyms: BAP004, Jak1BAP004, Jak1S645P, Jak1S645PMhda
Gene: Jak1  Location: Chr4:101009564-101122479 bp, - strand  Genetic Position: Chr4, 46.19 cM
Alliance: Jak1M1Mhda page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU) (Constitutively active)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a point mutation at the conserved serine at position 645 of the pseudokinase domain (p.Ser645Pro) corresponding to a somatic human mutation (p.Ser646Phe) inducing constitutive activation of the Janus Kinase/STAT pathway. (J:68708, J:199153)
Inheritance:    Dominant
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: 12 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 Jak1 Mutation:  50 strains or lines available
References
Original:  J:68708 Hrabe de Angelis MH, et al., Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet. 2000 Aug;25(4):444-7
All:  6 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