Breeds Affected: Miniature Pinscher
Samples Accepted: Blood, Buccal Swab
Disease Information: Mucopolysaccharidosis Type VI is a lysosomal storage disease which leads to skeletal anomalies, extreme joint laxity, growth retardation, corneal opacity, and heart murmur.
Inheritance Information: MPS VI is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/mps6 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/mps6 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
mps6/mps6 The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/mps6 carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/mps6 x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/mps6 x N/mps6) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (mps6/mps6) should not be used for breeding.
Test information: This mutation test identifies a single base change in exon 5 of the ARSB gene.
Foureman, P., Berman, L., Stieger, K., Van Hoeven, M., Ellinwood, N. M., Haskins, M. E., Kirkness, E., Giger, U.: Mucopolysaccharidosis type VI in miniature pinschers: Screening for the mutation. Journal of Veterinary Internal Medicine 18:408-409 (abstract), 2004.
Further information is available at the Online Mendelian Inheritance in Animals website.