Description: Hereditary disease where vitamin B12 (cobalamin) cannot be absorbed from the intestine. Lack of cobalamin leads to changes in the hematopoietic system and can cause irreversible damage to the brain and nervous system. Owczarek-Lipska et al. (2013) identified a mutation in the CUBN gene that causes this cobalamin malabsorption in the Border collie. The mutation c.8392delC in the CUBN gene shifts the reading frame and creates a premature stop codon (p.Q2798Rfs * 3).


Inheritance: autosomal recessive


Mutation: c.8392delC in CUBN gene


Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.


The analysis is suitable for the following breeds: Border collie, Australian Shepherd, Australian Koolie, Miniature American Shepherd, Miniature Australian Shepherd, Toy Australian Shepherd


Notes:  In the Australian Shepherd there is mainly a mutation-specific for this breed (AMN c.3G> A), IGS-AUO analysis is not yet available.