Summary
The SCAD deficient mouse model has been useful to investigate mechanisms of deficient fatty acid oxidation disease in human patients. This mouse model has been thor-oughly characterized and is readily available from the Jackson Laboratory. Using the new technologies of gene-knockout mouse modeling, we envisage developing additional members of the acyl-CoA dehydrogenase family of enzyme deficiencies in mice and fur-thering our understanding of fatty acid metabolism in health and disease.26
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References
Seeley, T.-L. & Holmes, R.S. (1981) Biochem. Genet., 19, 333–345 Genetics and ontogeny of butyryl CoA dehydrogenase in the mouse and linkage of Bcd-1 with Dao-1.
Prochazka, M. & Leiter, E.H. (1986) Mouse News Lett., 78, 31. A null activity variant found at the butyryl CoA dehydrogenase (Bcd-1) locus in BALB/cByJ mice.
Wood, P.A., Amendt, B.A., Rhead, W.J., Millington, D.S., Inoue, F. & Armstrong, D. (1989) Pediatr. Res., 25, 38–43. Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
Amendt, B.A., Greene, C, Sweetman, L., Cloherty, J., Shih, V., Moon, A., Teel, L. & Rhead, W.J. (1987) J. Clin. Invest., 79, 1303–1309. Short-chain acyl-coenzyme A dehydrogenase deficiency.
Schiffer, S.P., Prochazka, M., Jezyk, P.F., Roderick, T.H., Yudkoff, M. & Patterson, D.F. (1989) Biochem. Genet., 27, 47–58. Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice.
Reue, K. & Cohen, R.D. (1996) Mammalian Genome, 7, 694–695. Acads gene deletion in BALB/cByJ mouse strain occurred after 1981 and is not present in BALB/cByJ-fld mutant mice.
Les, E.P. (Fall 1990) JAX Notes No.443, 2–4. A brief history of the two substrains of BALB/c, BALB/cJ and BALB/cByJ available from the Jackson Laboratory.
Amendt, B.A., Freneaux, E., Reece, C., Wood, P.A. & Rhead, W.J. (1992) Pediatr. Res., 31, 552–556. Short-chain acyl-coenzyme A dehydrogenase activity, antigen and biosynthesis are absent in the BALB/cByJ mouse.
Armstrong, D.L., Masiowski, M.L. & Wood, P.A. (1993) Am. J. Med. Genet, 47, 884–892. Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice.
Kelly, C.L., Hinsdale, M.E. & Wood, P.A. (1993) Genomics 18, 137–140. Cloning and characterization of mouse short-chain acyl-CoA dehydrogenase cDNA.
Kelly, C.L. & Wood, P.A. (1996) Mammalian Genome, 7, 262–264. Cloning and characterization of the mouse short-chain acyl-CoA dehydrogenase gene.
Hinsdale, M.E., Kelly, C.L. & Wood, P.A. (1993) Genomics 16, 605–611. 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.
Wood, P.A., Hinsdale, M.E. & Kelly, C.L. (1993) Mouse Genome 91, 342–344. Molecular detection of the Bcd-1 null allele in BALB/cByJ mice by polymerase chain reaction: A simple assay for genetic monitoring.
Corydon, M.J., Andresen, B.S., Bross, P., Kjeldsen, M., Andreasen, P.H., Eiberg, H., Kolvraa, S. & Gregerson, N. (1997) Mammalian Genome 8, 922–926. Structural organization of the human short-chain acyl-CoA dehydrogenase gene.
Gregersen, N., Winter, VS., Corydon, M.J., Corydon, T.J., Rinaldo, P., Ribes, A., Martinez, G, Bennett, M.J., Vianeysaban, C, Bhala, A., Hale, D.E., Lehnert, W, Kmoch, S., Roig, M., Riudor, E., Eiberg, H., Andresen, B.S., Bross, P., Bolund, L.A. & Kolvraa, S. (1998) Hum. Mol. Genet., 7, 619–627. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients-One of the variant alleles 511C-〉 T is present at an unexpectedly high frequency in the general population, as was the case for 625G-〉 A, together conferring susceptibility to ethylmalonic aciduria.
Naito, E., Indo, Y. & Tanaka, K. (1990) J. Clin. Invest., 85, 1575–1582. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
Kelly, D.P., Whelan, A.J., Ogden, M.L., Alpers, R., Zhang, Z., Bellus, G, Gregersen, N., Dorland, L. & Strauss, A.W. (1990) Proc. Natl. Acad. Sci. USA, 87, 9236–9240. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Zhang, Z.F., Kelly, D.P., Kim, J.J., Zhou, Y.Q., Ogden, M.L., Whelan, A.J. & Strauss, A.W. (1992) Biochemistry, 31, 81–89. Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene.
Yamanaka, H., Ueshima, Y., Nakajima, T., Yoshida, N., Inoue, F, Kodo, N., Kinugasa, A. & Sawada, T. (1992) J. Inherited Metab. Dis., 15, 353–355. Gluconeogenesis and ketogenesis in perfused livers from short-chain acyl-CoA dehydrogenase-deficient mice.
Hinsdale, M.E., Hamm, D.A. & Wood, PA. (1996) Biochem. Mol. Med., 57, 106–115. Effects of shortchain acyl-CoA dehydrogenase deficiency on developmental expression of metabolic enzyme genes in the mouse.
Qureshi, I.A., Ratnakumari, L., Michalak, A., Giguere, R., Cyr, D. & Butterworth, R.F. (1993) Biochem. Med. Metab. Biol., 50, 145–158. A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency.
Qureshi, I.A., LeBlanc, D., Cyr, D., Giguere, R. & Mitchell, G. (1993) Biochem. Biophys. Res. Commun. 191, 744–749. Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: Testing the biochemical phenotype of double-mutant mice as a model for ammonia:fatty acyl CoA synergism.
Rao, K.V.R. & Qureshi, I.A. (1997) Can. J. Physiol. Pharmacol., 75, 423–4360. Decompensation of hepatic and cerebral acyl-CoA metabolism in BALB/cByJ mice by chronic riboflavin deficiency: restoration by acetyl-L-carnitine.
Kelly, C.L., Rhead, W.J., Kutschke, W.K., Brix, A.E., Hamm, D.A., Pinkert, C.A., Lindsey, J.R. & Wood, PA. (1997) Hum. Mol. Genet., 6, 1451–1455. Functional correction of short-chain acyl-CoA dehydro-genase deficiency in transgenic mice: Implications for gene therapy of human mitochondrial enzyme deficiencies.
Park, E.I., Paisley, E.A., Mangian, H.J., Swartz, D.A., Wu, M., O’Morchoe, P.J., Behr, S.R., Visek, W.J. & Kaput, J. (1997) J. Nutrition, 127, 566–573. Lipid level and type alter stearoyl CoA desaturase mRNA abundance differently in mice with distinct susceptibilities to diet-influenced diseases.
Wood, P.A., Farmer, S.C., Tolwani, R.J., Warren, J.R., Steinkampf, M.P., Johnson, L.W., Mountz, J.D. & Kelly, D.P. (1992) “in” New developments in fatty acid oxidation, (Coates, P.M. & Tanaka, K. eds.) Wiley-Liss, New York, pp. 151–160. Molecular studies of mouse medium and long-chain acyl-CoA dehydrogenase genes for-site-directed mutagenesis of embryonic stem cells.
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Wood, P.A., Kelly-Kurtz, C.L., Hinsdale, M.E., Hamm, D.A., Rhead, W.J. (2002). Lessons Learned from The Mouse Model of Short-Chain Acyl-CoA Dehydrogenase Deficiency. In: Quant, P.A., Eaton, S. (eds) Current Views of Fatty Acid Oxidation and Ketogenesis. Advances in Experimental Medicine and Biology, vol 466. Springer, Boston, MA. https://doi.org/10.1007/0-306-46818-2_46
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DOI: https://doi.org/10.1007/0-306-46818-2_46
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