title: Quantitative trait loci that modify the severity of spotting in piebald mice.
abstract: Mice homozygous for the recessive mutation piebald (s) exhibit a white-spotted coat caused by the defective development of neural crest-derived melanocytes. The severity of white spotting varies greatly, depending on the genetic background on which s is expressed. A backcross between two inbred strains of s/s mice that exhibit large differences in the degree of spotting was used to identify six genetic modifiers of piebald spotting on chromosomes 2, 5, 7, 8, 10, and 13. The loci differed in their spatial contribution to spotting on the dorsal versus ventral surfaces of mice; nonadditive interactions were observed between loci on chromosomes 2 and 5. This study underscores the power of using genetic analyses to identify and analyze loci involved in modifying the severity of phenotypic traits in mice.
authors.affiliation: Department of Molecular Biology, Princeton University, New Jersey, USA. bpavan@gaea.nchgr.nih.gov
authors.forename: W J
authors.initials: WJ
authors.lastname: Pavan
authors.forename: S
authors.initials: S
authors.lastname: Mac
authors.forename: M
authors.initials: M
authors.lastname: Cheng
authors.forename: S M
authors.initials: SM
authors.lastname: Tilghman
mesh_terms: D000818:Animals; D019070:Cell Lineage; D002465:Cell Movement / Q000235:genetics; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D004843:Epistasis, Genetic; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005808:Genes, Recessive; D006200:Hair Color / Q000235:genetics; D017496:Hypopigmentation / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008544:Melanocytes / Q000473:pathology; D051379:Mice; D008809:Mice, Inbred C3H; D008817:Mice, Mutant Strains / Q000235:genetics*; D009432:Neural Crest / Q000473:pathology; D010641:Phenotype