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Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity.

Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

Pubmed ID: 12101250


  • Moon YS
  • Smas CM
  • Lee K
  • Villena JA
  • Kim KH
  • Yun EJ
  • Sul HS


Molecular and cellular biology

Publication Data

August 8, 2002

Associated Grants

  • Agency: NIDDK NIH HHS, Id: DK 50828

Mesh Terms

  • Abnormalities, Multiple
  • Alleles
  • Animals
  • Blepharophimosis
  • Body Weight
  • Disease Models, Animal
  • Fathers
  • Genomic Imprinting
  • Growth Disorders
  • Heterozygote
  • Intercellular Signaling Peptides and Proteins
  • Lipid Metabolism
  • Membrane Proteins
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mothers
  • Obesity
  • Phenotype
  • Repressor Proteins
  • Ribs
  • Uniparental Disomy