Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model

Eur J Paediatr Neurol. 2001:5 Suppl A:37-41. doi: 10.1053/ejpn.2000.0432.

Abstract

In 1997, neuronal ceroid lipofuscinosis (NCL) was identified for the first time in Merino sheep in Australia. A homozygosity mapping approach localized the disease gene in Merino sheep to the same region on chromosome 7 in which NCL was recently mapped in South Hampshire sheep. This region shows conserved synteny with the region on human chromosome 15 in which the human late infantile NCL variant CLN6 was mapped. NCL in Merino and South Hampshire sheep are therefore potential animal models for the human late infantile variant CLN6.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Australia
  • Chromosome Mapping*
  • Disease Models, Animal*
  • Genotype
  • Homozygote
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Sheep / genetics*