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Chemically induced Allele Detail
Symbol: Bcat2m1Ytc
Name: branched chain aminotransferase 2, mitochondrial; mutation 1, Yuan-Tsong Chen
MGI ID: MGI:3028726
Gene: Bcat2  Location: Chr7:45570153-45589710 bp, + strand  Genetic Position: Chr7, 29.36 cM
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsA 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 destabilaztion of the message. Neither protein nor enzyme activity was detected in homozygous mutant mice. (J:87589)
View phenotypes for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Bcat2 Mutation:  179 strains or lines available
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)

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