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| Nomenclature |
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Symbol:
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Bcat2m1Ytc
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Name:
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branched chain aminotransferase 2, mitochondrial;
mutation 1, Yuan-Tsong Chen
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MGI ID: |
MGI:3028726 |
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Gene:
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Bcat2
Location:
Chr7:45570153-45589710 bp, + strand
Genetic Position: Chr7,
29.36 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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 destabilaztion of the message. Neither protein nor enzyme activity was detected in homozygous mutant mice. (J:87589)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
