Neuronal Ceroid Lipofuscinosis MFSD8 (Chinese Crested Type)

US$ 75.00 RRP

US$ 50.00 (USER PRICE)


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


Major facilitator superfamily domain containing 8 (MFSD8) on Chromosome 19

Variant Detected:

Nucleotide Deletion c.843delT p.Phe282Leufs13STOP


Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Guo, J. et al. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis (2015) BMC Vet Res, 10;960.

Associated Breed(s):

Chihuahua, Chinese Crested, Mixed Breed,