Bcat2^m1Ytc
Chemically induced Allele Detail

Summary

• Symbol: Bcat2^m1Ytc
• Name: branched chain aminotransferase 2, mitochondrial; mutation 1, Yuan-Tsong Chen
• MGI ID: MGI:3028726
• Gene: Bcat2 Location: Chr7:45219773-45239134 bp, + strand Genetic Position: Chr7, 29.36 cM
• Alliance: Bcat2^m1Ytc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A T-to-C point mutation in the 5' splice consensus sequence of exon 2 and intron 2 was induced by ENU mutagenesis. Sequencing of RT-PCR products and real-time quantitative RT-PCR indicated that this splice site mutation results in the exclusion of exon 2 which results in the destabilization of the message. Neither protein nor enzyme activity was detected in homozygous mutant mice. (J:87589)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Bcat2 Mutation: 193 strains or lines available

References

• Original: J:87589 Wu JY, et al., ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. J Clin Invest. 2004 Feb;113(3):434-40
• All: 1 reference(s)