| First Author | Schiffer SP | Year | 1989 |
| Journal | Biochem Genet | Volume | 27 |
| Issue | 1-2 | Pages | 47-58 |
| PubMed ID | 2712823 | Mgi Jnum | J:9743 |
| Mgi Id | MGI:58200 | Doi | 10.1007/BF00563017 |
| Citation | Schiffer SP, et al. (1989) Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. Biochem Genet 27(1-2):47-58 |
| abstractText | A metabolic screening program of inbred strains of mice has detected a marked organic aciduria in the BALB/cByJ strain. Gas chromatographic and mass spectrometric analysis identified large quantities of n-butyrylglycine plus lesser quantities of ethylmalonic acid. Crosses with the nonexcreting C57BL/6J strain indicate that this condition is inherited as an autosomal recessive trait. Independently from this screening a variant with no detectable enzyme activity of butyryl CoA dehydrogenase (BCD) in liver and kidney of the BALB/cByJ strain but not other BALB/c sublines was discovered. Data from a three-point cross indicated that the null variant maps to the structural locus for the enzyme, Bcd-1, on chromosome 5. The findings indicate that a mutation at or near Bcd-1 in the BALB/cByJ strain resulted in a biochemical abnormality manifest as the BCD deficiency. It is concluded that accumulation of butyryl CoA due to a block in the oxidation of short-chain fatty acids results in an overproduction of organic metabolites leading to the observed organic aciduria. The fact that other BALB/c substrains do not exhibit this abnormality further suggests that this disorder reflects subline divergence within the BALB/c family. |
