|
|
| Nomenclature |
|
Symbol:
|
Adktm1Bois
|
|
Name:
|
adenosine kinase;
targeted mutation 1, Detlev Boison
|
|
MGI ID: |
MGI:2449557 |
|
Synonyms: |
Adk-, fb-Adk-def |
|
Gene:
|
Adk
Location:
Chr14:21052574-21448568 bp, + strand
Genetic Position: Chr14,
11.58 cM, cytoband A2-B
|
|
Liver comparison of wild-type and Adktm1Bois/Adktm1Bois mice
Show the 1 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 (Reporter) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: This 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
34 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: |
9 reference(s)
|
|
Analysis Tools
