Robinow-like syndrome / screw tail (DVL2-related) - Dog

What does this test examine?

This genetic test examines the DVL2 deletion c.2044delC in dogs. The variant is used for Robinow-like syndrome and screw tail, also described as curly tail or DVL2-related skeletal and tail development in bulldog-type breeds.

What does Robinow-like syndrome mean?

DVL2 is involved in WNT signalling pathways that are important for development of the skeleton, spine, head shape and tail. Dogs with two copies of the tested deletion can develop the characteristic short, kinked or screw-shaped tail and related body features. Expression can differ between breeds and individual dogs: some animals mainly show the typical tail, while others also have vertebral changes or a clear bulldog-type appearance.

Practical value of this test

For this test, inheritance is described as autosomal recessive with incomplete penetrance and variable expression. This makes DNA information useful for breeders who want to manage tail shape, body conformation and DVL2-related risks in their lines. The test also helps place dogs within bulldog-type breeds more clearly from a genetic point of view.

• Shows whether the dog carries zero, one or two copies of the tested DVL2 deletion.
• Supports breeding decisions in breeds where screw tail and bulldog-type conformation are relevant.
• Helps plan matings when reducing unwanted vertebral or tail abnormalities is a goal.
• Provides clear genetic information for dogs with a short, kinked or screw-shaped tail.

Result and inheritance

A dog with N/N does not carry the tested deletion. A dog with N/delC is a carrier and can pass the variant on. A dog with delC/delC has the genotype that causes DVL2-related Robinow-like / screw-tail features, with variable visible severity.