Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene.
Congenital myotonia (CM) is characterised by a delay in muscular relaxation after sudden contractions. In a recent outbreak of ovine CM affecting 1% of new-born lambs in a Spanish flock of Rasa Aragonesa sheep, a comparative pathology approach was taken: because a mutation in the muscle chloride channel gene (CLCN1) was identified as responsible for CM in goats, the same gene was sequenced in the affected lambs. A non-synonymous single nucleotide variation (SNV) in the second exon of CLCN1 was associated with this pathology. Rams carrying this SNV heterozygously were thereafter identified and replaced by wild-type homozygous young males. No additional CM cases were detected in subsequent lambing seasons.
Department of Anatomy, Embryology and Animal Genetics, Veterinary Faculty, University of Zaragoza, Miguel Servet 177, Zaragoza 50013, Spain. Electronic address: monteagu@unizar.es.
Luis Vicente
LV
Monteagudo
Department of Anatomy, Embryology and Animal Genetics, Veterinary Faculty, University of Zaragoza, Miguel Servet 177, Zaragoza 50013, Spain.
María Teresa
MT
Tejedor
Department of Animal Pathology, Veterinary Faculty, University of Zaragoza, Miguel Servet 177, Zaragoza 50013, Spain.
Juan José
JJ
Ramos
Department of Animal Pathology, Veterinary Faculty, University of Zaragoza, Miguel Servet 177, Zaragoza 50013, Spain.
Delia
D
Lacasta
Department of Animal Pathology, Veterinary Faculty, University of Zaragoza, Miguel Servet 177, Zaragoza 50013, Spain.
Luis Miguel
LM
Ferrer
D000818:Animals; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism*; D004247:DNA / Q000235:genetics; D020022:Genetic Predisposition to Disease; D008297:Male; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics / Q000662:veterinary*; D012756:Sheep; D012757:Sheep Diseases / Q000235:genetics*
D018118:Chloride Channels; D004247:DNA
Muscle chloride channel gene; Ovine congenital myotonia; Single nucleotide variation