Adk^tm1Bois
Targeted Allele Detail

Summary

• Symbol: Adk^tm1Bois
• Name: adenosine kinase; targeted mutation 1, Detlev Boison
• MGI ID: MGI:2449557
• Synonyms: Adk-, fb-Adk-def
• Gene: Adk Location: Chr14:21102642-21498637 bp, + strand Genetic Position: Chr14, 11.58 cM, cytoband A2-B
• Alliance: Adk^tm1Bois page

Liver comparison of wild-type and Adk^tm1Bois/Adk^tm1Bois 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 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

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Adk Mutation: 50 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: 13 reference(s)