title: Null allele at Bcd-1 locus in BALB/cByJ mice is due to a deletion in the short-chain acyl-CoA dehydrogenase gene and results in missplicing of mRNA.
abstract: BALB/cByJ mice have a deficiency of short-chain acyl-CoA dehydrogenase (SCAD), an enzyme of fatty acid beta-oxidation. This mutant mouse strain represents the only animal model for any human inborn error of fatty acid metabolism. We have investigated the molecular basis of this defect by DNA and RNA analyses, comparing these mice with the wild-type predecessor strain BALB/cBy. We found that the mutant strain has a 278-bp deletion in the 3' end of the structural gene for SCAD and reduced steady-state levels of SCAD mRNA. Two major transcripts are produced in the mutant. One contains intronic sequence due to the absence of splicing, and the second transcript results from missplicing of a normal splice donor site to a cryptic splice acceptor site in the 3' terminal exon. Both abnormal transcripts have aberrant stop codons. These results demonstrate the molecular basis of SCAD deficiency in this unique mouse model.
authors.affiliation: Department of Comparative Medicine, School of Medicine, University of Alabama, Birmingham 35294-0019.
authors.forename: M E
authors.initials: ME
authors.lastname: Hinsdale
authors.forename: C L
authors.initials: CL
authors.lastname: Kelly
authors.forename: P A
authors.initials: PA
authors.lastname: Wood
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D004247:DNA; D005796:Genes; D006801:Humans; D051379:Mice; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism*; D017384:Sequence Deletion
chemical_list: D012333:RNA, Messenger; D004247:DNA; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase