6.47 Mb inversion
6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639
Sensory neuropathy (SN) causes severe, progressive degeneration of sensory and motor nerve cells. Signs include: knuckling of the feet, self-mutilation, excessive licking, progressive ataxia, and a progressive loss of sensation in limbs - progressing to include incontinence and regurgitation. Age of onset 2-7 months. As quality of life is severely affected, dogs with SN are euthanised before two years of age.
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age... Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population. (From Forman et al, 2017)
Forman, O.P., Hitti, R.J., Pettitt, L., Jenkins, C.A., O'Brien, D.P., Shelton, G.D., De Risio, L., Gutierrez Quintana, R., Beltran, E., Mellersh, C. : An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda) :, 2016. Pubmed reference: 27527794. DOI: 10.1534/g3.116.027896.
Breed Specific Info
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease in Border collies. RNA seq data indicates expression of gene is altered. Forman et al., (2016) An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda), 6, 2687-92.