German shepherd dogs (GSDs) are predisposed to an inherited motility disorder of the esophagus (the gullet), termed congenital idiopathic megaesophagus (CIM), in which the esophagus is enlarged and swallowing is ineffective. Affected puppies are unable to properly pass food into their stomachs and consequently regurgitate their meals and show a failure to thrive, often leading to euthanasia.
The disease affects males more than females which is thought to be due to the estrogen protection role in females.
Congenital Idiopathic Megaesophagus (CIM) is thought to be caused by a mutation in teh gene which encodes a receptor for melanin-concentrating hormone, a signaling molecule that is linked to appetite, weight, and gut motility.
The disease affects males more than females which is thought to be due to the estrogen protection role in females.
Congenital Idiopathic Megaesophagus (CIM) is thought to be caused by a variant in the gene which encodes a receptor for melanin-concentrating hormone, a signaling molecule that is linked to appetite, weight, and gut motility.
This is a high-risk factor variant and so dogs with the variant have higher risk of developing the disease.
The single-copy allele (N/CIM) is strongly associated with CIM, with homozygosity (CIM/CIM) for this allele posing the most significant risk.
both sex and the variant can predict affection status in over 75% of dogs , and a genetic test is now available at Laboklin to facilitate breeding decisions aimed at reducing disease incidence.
