Turnaround time
10 workdays
48.4
40
DNA test for the FNIP2 c.880delA variant that causes autosomal recessive hypomyelination and Shaking Puppy Syndrome in the Weimaraner.
Overview
This genetic test analyses the FNIP2 c.880delA variant in the Weimaraner. The condition is known as hypomyelination, central nervous system hypomyelination, Shaking Puppy Syndrome, shaking puppy and SPS. FNIP2 is involved in cellular processes important for normal development and function of nervous tissue.
Hypomyelination means that the myelin sheath around nerve pathways is insufficiently formed. Myelin allows nerve signals to travel quickly and efficiently. When too little myelin is present, young puppies can develop marked muscle tremors and coordination problems. In Weimaraners, tremors are often seen at two to three weeks of age; in many dogs the signs lessen later, although a fine hind-limb tremor can persist.
The trait is inherited as an autosomal recessive condition. Dogs with two copies of the tested deletion develop FNIP2-related hypomyelination. Carriers have one copy, are usually clinically healthy, but can pass the variant to offspring.
This test helps breeders avoid carrier-to-carrier matings. It can strongly reduce the risk of puppies with tremors and neurological developmental problems while still allowing valuable carriers to be used responsibly with a suitable mate.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: No FNIP2 deletion detected (N/N)
The FNIP2 c.880delA variant was not detected. This dog does not cause hypomyelination through this variant and will not pass the tested variant on.
Genotype / allele combination: Carrier of FNIP2 deletion (N/del)
This dog carries one copy of the FNIP2 deletion. This genotype does not cause recessive hypomyelination in the dog, but the variant can be passed on; do not mate with another carrier.
Genotype / allele combination: Affected genotype for FNIP2 hypomyelination (del/del)
This dog has two copies of the FNIP2 deletion. This genotype causes FNIP2-related hypomyelination for the tested variant and explains a high risk of tremors in young puppies.
Sampling and submission guidelines





References