Lysosomal storage disease / LSD (CNP-related) - Weimaraner

What does this test analyse?

This genetic test analyses the CNP c.125C>T variant in the Weimaraner. The condition is named lysosomal storage disease, LSD and CNP-related neurodegeneration.

CNP encodes a protein involved in myelin and nervous tissue.

What does this condition mean?

In Weimaraners, the c.125C>T variant is linked to a slowly progressive neurodegenerative lysosomal storage disease. Signs can include ataxia, paraparesis, incontinence, cognitive decline, reduced appetite, posture changes and trance-like episodes.

Inheritance and result

The trait is inherited as autosomal incomplete dominant. One copy can already be clinically relevant with variable expression; two copies indicate higher genetic risk and generally a more severe interpretation.

Practical value of this test

• The test distinguishes clear dogs, carriers and genetically affected or risk-positive dogs.
• The result helps breeders plan matings and avoid risk pairings.
• Variant status can be documented clearly within lines, families and breeding advice.
• The test helps breeders determine whether a dog carries zero, one or two copies of the CNP variant.
• With incomplete dominant inheritance, variant dose matters: one copy and two copies do not have the same meaning.
• The result supports selection against a progressive neurological disease within the Weimaraner population.

Expression can be variable, especially with one copy of the variant; a concrete genotype result is therefore important for breeding plans and risk assessment.