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Craniomandibular Osteopathy (Weimaraner Type)

Affected Genes: SLC35D1

Inheritance: Incomplete Dominance

Variant(canFam6):
chr5:43641036: C>T

Breed: Weimaraner

General Information: Craniomandibular Osteopathy (Weimaraner Type) is a hereditary bone disorder that typically appears in dogs between 3 to 8 months of age. This condition causes abnormal bone growth in the jaw and sometimes other bones of the head, leading to symptoms such as swelling of the jaw, pain when opening the mouth, drooling, and difficulty eating. Affected dogs may also exhibit fever and lethargy. The severity of the condition can vary, with some dogs experiencing significant discomfort and others showing milder symptoms. The disease generally progresses for several months and then may stabilize or regress, but some dogs may have lasting effects. Treatment focuses on managing pain and ensuring proper nutrition.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the SLC35D1 gene can identify whether a dog is a carrier of Craniomandibular Osteopathy (Weimaraner Type). This disease is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the condition to develop. Carrier dogs, possessing only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the condition and a 50% chance of being a carrier. To prevent affected offspring and eliminate the mutation from breeding lines, it is advised not to breed two carriers. Dogs that are not carriers pose no increased risk of having pups with the condition.

References:
Letko A, Leuthard F, Jagannathan V, Corlazzoli D, Matiasek K, Schweizer D, Hytönen MK, Lohi H, Leeb T,and Drögemüller C. (2020). Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs. Genes (Basel) 11(2):163.