Amacr^tm1Jkh
Targeted Allele Detail

Summary

• Symbol: Amacr^tm1Jkh
• Name: alpha-methylacyl-CoA racemase; targeted mutation 1, J Kalervo Hiltunen
• MGI ID: MGI:3044171
• Gene: Amacr Location: Chr15:10981875-10995693 bp, + strand Genetic Position: Chr15, 5.39 cM, cytoband B1
• Alliance: Amacr^tm1Jkh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:90370
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 1-3 were replaced with a neomycin selection cassette. Real-time PCR showed lack of transcript in mutant mice. Immunoblotting demonstrated lack of protein in mutant liver and kidney. (J:90370)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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 Amacr Mutation: 14 strains or lines available

References

• Original: J:90370 Savolainen K, et al., A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. Hum Mol Genet. 2004 May 1;13(9):955-65
• All: 5 reference(s)