Development of an Efficient Method for Genotyping at the gd Locus in NC/Sgn Mice Based on PCR-RFLP Analysis

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概要

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• Growth deficit (gd) is a recessive mutation that occurs spontaneously in the inbred NC/Sgn mouse strain. Because homozygotes (gd/gd) of both sexes are sterile, they must be produced by mating putative heterozygous carriers (+/gd) whose phenotypes are essentially the same as those of wild-type +/+ mice. The objectives of this study were to develop an efficient method that distinguished a gd allele from a wild-type allele and, if possible, to identify nucleotide substitutions responsible for the gd mutation. The location of the gd locus was estimated to be at 58.3 Mbp on chromosome 4, over which Musk is located. An A-to-G base substitution, which resulted in an M826V amino acid exchange, was identified within a tyrosine kinase domain of Musk. This base substitution disrupted a recognition site for NlaIII; this allowed for discriminating the gd allele from the wild-type allele using PCR-RFLP analysis. When 130 (C57BL/6J × NC/Sgn-gd) F2 mice were genotyped by PCR-RFLP analysis, all 32 growth-retarded F2 mice were judged to have the gd/gd genotype. Musk mutations are known to cause congenital myasthenia, which is accompanied by growth retardation, postnatal lethality, and development of a hunchback. These were the typical phenotypes of gd/gd mutants. Although we cannot rule out the possibility that the neighboring genes around the Musk locus are related to the gd phenotype, gd could possibly be classified as a mutant allele of Musk.

• 日本獣医学会の論文

著者

• Suto Jun-ichi

  Agrogenomics Res. Center National Inst. Of Agrobiological Sciences

• SUTO Jun-ichi

  Agrogenomics Research Center, National Institute of Agrobiological Sciences

関連論文

• Quantitative Trait Loci that Control Body Weight and Obesity in an F2 Intercross between C57BL/6J and DDD.Cg-Ay Mice
• Identification of the Modifier Locus that Suppresses Neonatal Lethality in (♀DDD × ♂DH-Dh/+) F1-Dh/+ Male Mice
• Quantitative Trait Loci that Control Plasma Lipid Levels in an F2 Intercross between C57BL/6J and DDD.Cg-Ay Inbred Mouse Strains
• Confirmation of sable QTL that modifies the effects of the Ay allele on yellow coat color on mouse chromosome 1
• Development of an Efficient Method for Genotyping at the gd Locus in NC/Sgn Mice Based on PCR-RFLP Analysis
• QTL Mapping of Genes Controlling Plasma Insulin and Leptin Concentrations: Metabolic Effect of Obesity QTLs Identified in an F2 Intercross between C57BL/6J and DDD.Cg-Ay Inbred Mice

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