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Publication : 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.

First Author  Graw J Year  1997
Journal  Mutat Res Volume  382
Issue  1-2 Pages  75-8
PubMed ID  9360640 Mgi Jnum  J:43966
Mgi Id  MGI:1099217 Doi  10.1016/s1383-5726(97)00005-8
Citation  Graw J, et al. (1997) 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. Mutat Res 382(1-2):75-8
abstractText  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.
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