title: Detection of a point mutation (A to G) in exon 5 of the murine Mgf gene defines a novel allele at the Steel locus with a weak phenotype.
abstract: A new mutation at the locus encoding the mast cell growth factor (Mgf) is described and designated as MgfSl-3Neu. Homozygous mutants have a light grey fur, sometimes with white patches. Homozygotes are fertile, but with reduced litter size, when mated inter se. Analysis of haematological parameters indicated no difference between mutant and wild-type mice. Sequence analysis of the cDNA obtained from the brain of homozygous mutants revealed an A-->G exchange at position 400 leading to a predicted amino acid exchange from Asn-->Leu at position 122. As a consequence of the predicted amino acid exchange an extension of the alpha-helical context and a decreased hydropathicity of the region at positions 101-125 can be deduced. This single amino acid exchange is outside of the known important domains of MGF and explains the weak phenotype of MgfSl-3Neu.
authors.affiliation: Institute of Mammalian Genetics, GSF-National Research Center for Environment and Health, Neuherberg, Germany. graw@gsf.de
authors.forename: J
authors.initials: J
authors.lastname: Graw
authors.forename: A
authors.initials: A
authors.lastname: Neuhäuser-Klaus
authors.forename: W
authors.initials: W
authors.lastname: Pretsch
mesh_terms: D000483:Alleles; D000818:Animals; D003433:Crosses, Genetic; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005796:Genes / Q000235:genetics; D006200:Hair Color / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D019089:Stem Cell Factor / Q000737:chemistry / Q000235:genetics*; D013329:Structure-Activity Relationship
chemical_list: D019089:Stem Cell Factor