title: 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.
abstract: Breeding experiments were conducted to combine the X-linked sparse-fur (spf) mutation with ornithine transcarbamylase deficiency and the autosomal recessive deficiency of short-chain acyl CoA dehydrogenase (SCAD) in BALB/cByJ mice. We obtained spf/Y (scad/scad), spf/+ (scad/scad) and spf/spf (scad/scad) double mutants amongst the F2 progeny, which were tested and separated on the basis of urinary orotate and the GC/MS analysis of urinary butyrylglycine, methylsuccinate and ethylmalonate. The testing of the biochemical type was feasible both on the basis of a 24-h urine collection form adult mice kept in metabolic cages and on the basis of urine spots collected on filter paper from younger progeny. It is postulated that the spf/Y (scad/scad) double-mutant may serve as a useful animal model to study the ammonia: fatty acyl CoA synergism.
authors: Service of Medical Genetics, Hôpital Sainte-Justine, Montreal, Quebec, Canada.
authors: I A
authors: IA
authors: Qureshi
authors: D
authors: D
authors: Leblanc
authors: D
authors: D
authors: Cyr
authors: R
authors: R
authors: Giguère
authors: G
authors: G
authors: Mitchell
mesh_terms: D000214:Acyl Coenzyme A / Q000378:metabolism*; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics; D000641:Ammonia / Q000378:metabolism*; D000818:Animals; D044926:Butyryl-CoA Dehydrogenase; D003433:Crosses, Genetic; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006197:Hair; D008297:Male; D008314:Malonates / Q000652:urine; D051379:Mice; D008807:Mice, Inbred BALB C; D008817:Mice, Mutant Strains; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine; D010641:Phenotype; D013386:Succinates / Q000652:urine; D014960:X Chromosome
chemical_list: D000214:Acyl Coenzyme A; D008314:Malonates; D013386:Succinates; C038080:ethylmalonic acid; D009963:Orotic Acid; D000641:Ammonia; D044944:Acyl-CoA Dehydrogenases; D044926:Butyryl-CoA Dehydrogenase; D009954:Ornithine Carbamoyltransferase; C039138:methylsuccinic acid; D005998:Glycine