Neuronal Ceroid Lipofuscinosis 12 / NCL12 (ATP13A2-related) - Australian Cattle Dog

What does this test examine?

This genetic test analyses the ATP13A2 c.1118C>T variant in the Australian Cattle Dog. The condition is known as neuronal ceroid lipofuscinosis 12, NCL12, a CLN12/Batten-like neurodegenerative disorder and ATP13A2-related lysosomal storage disease.

ATP13A2 encodes a lysosomal membrane protein. The c.1118C>T variant alters the protein and causes accumulation of autofluorescent storage material in tissues including brain, retina and cerebellum.

What does this condition mean?

NCL12 is a progressive neurodegenerative disorder. In the Australian Cattle Dog it often becomes visible later in life, so breeding animals may already have been used before the condition is recognised in a line.

Signs can include anxiety or behaviour change, loss of learned responses, sensitivity to noise, sleep disturbance, vocalisation, tremors, seizures, stiffness, weakness, loss of coordination and reduced vision in bright or dim light.

Inheritance and result

The trait is inherited as autosomal recessive. Two copies of the variant cause the condition. Carriers have one copy, usually appear healthy, and can pass the variant on.

What does the result mean?

• Clear (C/C): the tested variant was not detected.
• Carrier (C/T): the dog carries one copy and can pass the variant on.
• Affected (T/T): two copies cause ATP13A2-related NCL12.

Practical value of this test

• Shows whether a Australian Cattle Dog is clear, carrier or genetically affected for the tested ATP13A2 variant.
• Helps breeders avoid carrier-to-carrier matings and prevent puppies with a severe progressive neurological disorder.
• Provides valuable information before young or clinically normal dogs are used for breeding.
• Supports line management when ataxia, behaviour changes, vision loss or NCL occur in related animals.
• Makes communication with puppy buyers and fellow breeders more concrete because variant status is objectively known.

Because NCL12 can start later in life, DNA testing prevents carriers from being recognised only after the variant has already spread further through a breeding line.