Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor

Immunity. 2003 Jul;19(1):131-44. doi: 10.1016/s1074-7613(03)00168-7.

Abstract

A central issue in understanding the hematolymphoid system is the generation of appropriate mutant alleles in mice to reveal the function of regulatory genes. Here we describe a mouse strain, Plastic, with a point mutation in a zinc finger of Ikaros that disrupts DNA binding but preserves efficient assembly of the full-length protein into higher order complexes. Ikaros(Plastic) homozygosity is embryonically lethal with severe defects in terminal erythrocyte and granulocyte differentiation, excessive macrophage formation, and blocked lymphopoiesis, while heterozygotes display a partial block in lymphocyte differentiation. The contrast with more circumscribed effects of Ikaros alleles that ablate the full-length protein highlights the importance in mammals of generating recessive niche-filling alleles that inactivate function without creating a void in multimolecular assemblies.

MeSH terms

  • Alleles
  • Anemia / etiology
  • Animals
  • Cell Differentiation
  • DNA / metabolism
  • DNA-Binding Proteins*
  • Dimerization
  • Erythrocytes / physiology
  • Ethylnitrosourea
  • Hematopoiesis / physiology*
  • Hepatocytes / physiology
  • Ikaros Transcription Factor
  • Lymphocytes / physiology
  • Lymphoma / etiology
  • Mice
  • Mice, Inbred C57BL
  • Myeloid Cells / physiology
  • Point Mutation
  • Transcription Factors / chemistry
  • Transcription Factors / genetics
  • Transcription Factors / physiology*

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • Zfpn1a1 protein, mouse
  • Ikaros Transcription Factor
  • DNA
  • Ethylnitrosourea