Jochen Graw, Angelika Neuhäuser-Klaus, Walter Pretsch
{"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 phenotype1","authors":"Jochen Graw, Angelika Neuhäuser-Klaus, Walter Pretsch","doi":"10.1016/S1383-5726(97)00005-8","DOIUrl":null,"url":null,"abstract":"<div><p><span>A new mutation at the locus encoding the mast cell growth factor (Mgf) is described and designated as </span><em>Mgf<sup>Sl-3Neu</sup></em><span>. 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 α-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 </span><em>Mgf<sup>Sl-3Neu</sup></em>.</p></div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1997-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(97)00005-8","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mutation Research/Mutation Research Genomics","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1383572697000058","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2
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 α-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.