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Adktm1Bois
Targeted Allele Detail
Nomenclature
Symbol: Adktm1Bois
Name: adenosine kinase; targeted mutation 1, Detlev Boison
MGI ID: MGI:2449557
Synonyms: Adk-, fb-Adk-def
Gene: Adk  Location: Chr14:21052574-21448569 bp, + strand  Genetic Position: Chr14, 11.58 cM, cytoband A2-B
Liver comparison of wild-type and Adktm1Bois/Adktm1Bois mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:81518
Parent Cell Line:  mEMS32 (ES Cell)
Strain of Origin:  129P3/JEmsJ
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
 
Mutation detailsThis gene was disrupted by the in frame insertion of GFP containing expression cassette. Western analysis was used to demonstrate a lack of protein in homozygous mutant mice. (J:81518)
Inheritance:    Recessive
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: 2 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 Adk Mutation:  19 strains or lines available
Notes
The lethality and hepatic steatosis associated with homozygosity for this mutation are rescued by a transgene expressing adenosine kinase under control of the human ubiquitin promoter, despite the protein's low expression in the liver. (J:105483)
References
Original:  J:81518 Boison D, et al., Neonatal hepatic steatosis by disruption of the adenosine kinase gene. Proc Natl Acad Sci U S A. 2002 May 14;99(10):6985-90
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
11/05/2019
MGI 6.14
The Jackson Laboratory