Diagnostic assay for the causative allele for Jersey Neuropathy with Splayed Forelimbs.
Abstract The genetic defect Jersey Neuropathy with Splayed Forelimbs (JNS) was recently identified by the American Jersey Cattle Association ((AJCA), AJCA 2020). Affected calves are born alive but show several symptoms including being unable to stand on splayed forelimbs and neurologic symptoms including spasticity of head and neck and convulsive behavior. While a missense variant in UCLH1 chromosome 6 60,158,901G->A is the likely causative allele no commercial diagnostic assay currently is offered. Therefore, an animal's JNS status is currently based on a diagnostic SNP haplotype, which is not 100% accurate. To provide a more accurate carrier status information, we developed an in-house diagnostic test for the JNS causative allele. The assay information is provided below to allow diagnostic labs across the globe to quickly implement a causative allele diagnostic test and offer it to their local Jersey producers.