Bcat2<m1Ytc> Chemically induced Allele Detail MGI Mouse (MGI:3028726)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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)

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