title: Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model.
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.
authors.affiliation: Centre for Advanced Technologies in Animal Genetics and Reproduction (ReproGen), University of Sydney, 425 Werombi Road, Camden NSW 2570, Australia. itammen@camden.usyd.edu.au
authors.forename: I
authors.initials: I
authors.lastname: Tammen
authors.forename: R W
authors.initials: RW
authors.lastname: Cook
authors.forename: F W
authors.initials: FW
authors.lastname: Nicholas
authors.forename: H W
authors.initials: HW
authors.lastname: Raadsma
mesh_terms: D000818:Animals; D001315:Australia; D002874:Chromosome Mapping; D004195:Disease Models, Animal; D005838:Genotype; D006720:Homozygote; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D012756:Sheep / Q000235:genetics*