Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia

Pediatr Res. 2004 Apr;55(4):581-4. doi: 10.1203/01.PDR.0000113462.98851.2E. Epub 2004 Jan 22.

Abstract

Neurofibromatosis type one (NF1) is a common genetic disorder affecting 1:4000 births and is characterized by benign and malignant tumors. Children with NF1 are predisposed to juvenile myelomonocytic leukemia. The Nf1 gene encodes neurofibromin, which can function as a Ras GTPase-activating protein. Neurofibromin deficiency in mice leads to mid-gestation lethality due to cardiovascular defects. We have previously shown that conditional inactivation of Nf1 using Tie2-Cre recapitulates the heart defects seen in Nf1(-/-) embryos. Tie2-Cre transgenic mice express Cre recombinase in all endothelial cells. Here, we show that Tie2-Cre-mediated deletion of Nf1 also leads to excision of Nf1 in the hematopoietic lineage. Surviving mice exhibit a myeloproliferative disorder similar to juvenile myelomonocytic leukemia seen in NF1 patients. These mice provide a useful model to study neurofibromin deficiency in hematopoiesis. Furthermore, defects in Tie2-Cre-expressing progenitors that result in heart and blood defects suggest that related heart and blood disorders in NF1 and other syndromes represent disorders of the hemangioblast.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Child
  • Disease Models, Animal
  • Gene Silencing*
  • Genes, Neurofibromatosis 1*
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / physiology
  • Humans
  • Integrases / genetics
  • Integrases / metabolism*
  • Leukemia, Myelomonocytic, Chronic / genetics
  • Leukemia, Myelomonocytic, Chronic / physiopathology*
  • Leukocytes / cytology
  • Leukocytes / metabolism
  • Mice
  • Mice, Transgenic
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / physiopathology*
  • Receptor, TIE-2 / genetics
  • Receptor, TIE-2 / metabolism*
  • Spleen / cytology
  • Spleen / metabolism
  • Spleen / pathology

Substances

  • Receptor, TIE-2
  • Cre recombinase
  • Integrases