Genetics analysis of mouse mutations Abnormal feet and tail and rough coat, which cause developmental abnormalities and alopecia

Mamm Genome. 2002 Dec;13(12):675-9. doi: 10.1007/s00335-002-2191-6.

Abstract

Mutations in the mouse Brachyury (T) gene are characterized by a dominant reduction of tail length and recessive lethality. Two quantitative trait loci, Brachyury-modifier 1 and 2 (Brm1 and Brm2) are defined by alleles that enhance the short-tail Brachyury phenotype. Here we report on a genetic analysis of a visible dominant mutation Abnormal feet and tail (Aft) located in the vicinity of Brm1. Affected animals display kinky tails and syndactyly in the hindlimbs, both likely resulting from a defect in apoptosis. We observed an unusual genetic incompatibility between Aft and certain genetic backgrounds. We show that Aft and T are likely to interact genetically, since some double heterozygotes are tailless. In addition to the tail and hindlimb phenotypes, Aft-bearing mutants display characteristic late-onset skin lesions. We therefore tested for allelism between Aft and a closely linked recessive mutation rough coat (rc) and found that these two mutations are likely nonallelic. Our results provide a valuable resource for the study of mammalian skin development and contribute to the genetic analysis of Brachyury function.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Alleles
  • Alopecia / genetics*
  • Animals
  • Crosses, Genetic
  • Embryonic and Fetal Development
  • Female
  • Fetal Proteins*
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / pathology
  • Gene Expression Regulation, Developmental*
  • Genes, Dominant
  • Genes, Lethal
  • Genes, Recessive
  • Genetic Markers
  • Genotype
  • Hair / abnormalities*
  • Hair / pathology
  • Hindlimb / abnormalities
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Microsatellite Repeats
  • Mutation / genetics
  • Phenotype
  • Quantitative Trait, Heritable
  • Syndactyly / genetics
  • T-Box Domain Proteins / genetics*
  • Tail / abnormalities*
  • Tail / pathology

Substances

  • Fetal Proteins
  • Genetic Markers
  • T-Box Domain Proteins
  • Brachyury protein