Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration

Mamm Genome. 1995 Mar;6(3):187-91. doi: 10.1007/BF00293010.

Abstract

Neuromuscular degeneration, nmd, is a spontaneous autosomal recessive mutation in the mouse producing progressive hindlimb impairment caused by spinal muscular atrophy. We used an intersubspecific intercross between B6.BKs-nmd2J/+ and Mus musculus castaneus (CAST/Ei) to map the nmd mutation to mouse Chromosome (Chr) 19 with the most likely gene order: nmd-(D19Sel2, Pygm)-Cntf-Pomc2-D19Mit16-Cyp2c-Got1. nmd maps near muscle deficient, mdf, and has a very similar clinical phenotype, but allele tests and histological differences suggest that nmd is a distinct mutation at a different locus. Although closely linked, nmd recombined with the candidate genes muscle glycogen phosphorylase, Pygm, and ciliary neurotrophic factor, Cntf.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosome Mapping / methods*
  • Ciliary Neurotrophic Factor
  • Crosses, Genetic
  • Female
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Motor Neurons / pathology
  • Motor Neurons / physiology
  • Muscle, Skeletal / pathology
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Mutation / genetics*
  • Nerve Degeneration / genetics*
  • Nerve Growth Factors / genetics
  • Nerve Tissue Proteins / genetics
  • Phosphorylases / genetics
  • Spinal Cord / pathology

Substances

  • Ciliary Neurotrophic Factor
  • Nerve Growth Factors
  • Nerve Tissue Proteins
  • Phosphorylases