Neuronal ceroid lipofuscinosis 5 / NCL5 (CLN5-related) - Australian Cattle Dog / Border Collie

What does this test examine?

This genetic test analyses the CLN5 variant c.619C>T in the Australian Cattle Dog / Border Collie. The condition is known as Neuronal ceroid lipofuscinosis 5 / NCL5, NCL5, neuronal ceroid lipofuscinosis and Batten disease.

The tested CLN5 variant is a stop-gain mutation that introduces a premature stop codon and severely disrupts CLN5 protein function.

What does this condition mean?

This NCL5 form can cause behaviour changes, hyperactivity, dementia-like signs, aggression, ataxia, loss of coordination and blindness in young dogs.

NCL disorders are lysosomal storage diseases in which waste material accumulates in nerve cells. This progressively damages the nervous system and often vision. For breeders this is important because carriers can look healthy while two carriers together can produce genetically affected puppies.

Inheritance and result

The trait is autosomal recessive. A clear dog does not carry the variant, a carrier has one copy and a dog with two copies is genetically affected for this form of Neuronal ceroid lipofuscinosis 5 / NCL5.

Practical value of this test

• The result shows whether the dog is clear, carrier or genetically affected for the tested variant.
• Breeders can identify carriers and avoid matings that can produce affected puppies.
• The test helps clarify neurological NCL risk before breeding plans, sale or use as a breeding animal.
• Carriers can be used responsibly with clear partners, preserving genetic diversity without producing affected puppies.
• In breeds where the variant occurs, the result supports line management, family screening and targeted selection.