Neuronale Zeroidlipofuszinose 12 (NCL-12) - Australian Cattle Dog Mischling leading to progressive kidney failure

leading to progressive kidney failure

Dogs with two copies of mutation (homozygotes for mutation) are called „bully' Whippets

Mutation: NHEJ1 gene

retina and other tissues

Eine Mutation in diesem Gen ist verantwortlich für das Auftreten einer demyelinisierenden peripheren Neuropathie mit abnormal gefaltetem Myelin

Neuronale Zeroidlipofuszinose 12 (NCL-12) - Australian Cattle Dog Mischling leading to progressive kidney failureNeuronal ceroid lipofuscinosis is a lysosomal storage disease, characterized by neurodegeneration and decline in neurological functions at approximately 6 years of age due to accumulation of autofluorescent lysosomal storage bodies in cells of the central nervous system, as well as many other tissues. The clinical signs also include anxiety, impaired ability to recognize and respond to previously learned commands, increased sensitivity to loud or