Other Names: Cobalamin Deficiency, Cubilin Deficiency, Imerslund-Grasbeck Syndrome, I-GS
Affected Gene: CUBN
Transmission: Autosomal recessive
Mutation: CanFam3.1 chr2 g.19974334 delC

Breeds Recommended for Testing: Australian Shepherd, Border Collie, Miniature American Shepherd, Miniature Australian Shepherd

References:
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Grasbeck syndrome in dogs.
Mol Genet Metab. 2013 Aug;109(4):390-6. DOI: 10.1016/j.ymgme.2013.05.006