The hairless gene of the mouse: relationship of phenotypic effects with expression profile and genotype

M B Cachón-González, I San-José, A Cano, J A Vega, N García, T Freeman, T Schimmang, J P Stoye

Research output: Contribution to journalArticlepeer-review


Various mutations of the hairless (hr) gene of mice result in hair loss and other integument defects. To examine the role of the hr gene in mouse development, the expression profile of hr has been determined by in situ hybridisation and correlated to the nature of genetic changes and morphological abnormalities in different mutant animals. Four variant alleles have been characterised at the molecular level. hr/hr mice produce reduced, but significant, levels of hr mRNA whereas other alleles contain mutations which would be expected to preclude the synthesis of functional product, demonstrating a correlation between allelic variation at the hr locus and phenotypic severity. hr expression was shown to be widespread and temporally regulated. It was identified in novel tissues such as cartilage, developing tooth, inner ear, retina, and colon as well as in skin and brain. Analysis of mice homozygous for the rhino allele of hairless revealed that, although no morphological defects were detectable in many tissues normally expressing hr, previously undescribed abnormalities were present in several tissues including inner ear, retina, and colon. These findings indicate that the hairless gene product plays a wider role in development than previously suspected. Dev Dyn 1999;216:113-126.
Original languageEnglish
Pages (from-to)113-26
Number of pages14
JournalDevelopmental Dynamics
Issue number2
Publication statusPublished - Oct 1999


  • Animals
  • Base Sequence
  • Brain
  • Cilia
  • Cochlea
  • Epidermis
  • Epithelium
  • Exons
  • Gene Expression Regulation, Developmental
  • Genotype
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Molecular Sequence Data
  • Musculoskeletal System
  • Mutation
  • Phenotype
  • Point Mutation
  • Proteins
  • RNA, Messenger
  • Retina
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tooth
  • Transcription Factors

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