Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene

Nat Genet. 1993 Jun;4(2):124-9. doi: 10.1038/ng0693-124.

Abstract

Mice with the recessive motheaten (me) or the allelic viable motheaten (mev) mutations express a severe autoimmune and immunodeficiency syndrome. We have shown that the basic defect in these mice involves lesions in the gene which encodes haematopoietic cell phosphatase (HCP). These mice thus provide excellent models for investigating the roles of phosphatases in haematopoiesis and the nature of the genetic and cellular events linking impaired haematopoiesis to severe immunodeficiency and expression of systemic autoimmunity.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alopecia / genetics
  • Alopecia / immunology
  • Alopecia / pathology
  • Animals
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Autoimmune Diseases / pathology
  • Base Sequence
  • Bone Marrow / enzymology
  • Bone Marrow / metabolism
  • Bone Marrow / pathology
  • Chromosome Mapping
  • Consensus Sequence
  • DNA Mutational Analysis
  • Genes, Recessive
  • Hematopoietic Stem Cells / enzymology*
  • Hematopoietic Stem Cells / pathology
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / pathology
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Mice, Inbred C57BL / genetics
  • Mice, Mutant Strains / genetics*
  • Mice, Mutant Strains / immunology
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Phosphorylation
  • Polymerase Chain Reaction
  • Protein Processing, Post-Translational
  • Protein Tyrosine Phosphatase, Non-Receptor Type 6
  • Protein Tyrosine Phosphatases / deficiency
  • Protein Tyrosine Phosphatases / genetics*
  • RNA Splicing
  • RNA, Messenger / genetics
  • Sequence Alignment
  • Sequence Deletion

Substances

  • Intracellular Signaling Peptides and Proteins
  • RNA, Messenger
  • Protein Tyrosine Phosphatase, Non-Receptor Type 6
  • Protein Tyrosine Phosphatases
  • Ptpn6 protein, mouse