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Neuronal Ceroid Lipofuscinosis 8 - Australian Shepherd Type

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Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

CLN8

Variant Detected:

G>A

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Guo, J., Johnson, G. S., Brown, H. A., Provencher, M. L., da Costa, R. C., Mhlanga-Mutangadura, T., … Katz, M. L. (2014). A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian shepherd ancestry. Molecular Genetics and Metabolism, 112(4), 302–309.

Associated Breed(s):

Australian Shepherd, Unknown,

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