Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 191342 (gene) , 615491 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific name: Jersey neuropathy with splayed forelimbs

Species-specific symbol: JNS

Species-specific description: In a press release issued on 20 November 2020, the American Jersey Cattle Association announced that "A new undesirable genetic factor, known as Jersey Neuropathy with Splayed Forelimbs (JNS), has been identified in the Jersey breed."

Inheritance: Al-Khudhair et al. (2022): "Inheritance of an undesirable genetic factor was determined from a study of 16 affected calves reported by Jersey breeders across the United States. All of their pedigrees traced back on both paternal and maternal sides to a common ancestor born in 1995."

Mapping: Al-Khudhair et al. (2022): "Genotypes revealed that JNS is attributable to a specific haplotype on Bos taurus autosome 6."

Molecular basis: Al-Khudhair et al. (2022): "Sequencing of the region of shared homozygosity revealed missense variant rs1116058914 at base 60,158,901 of the ARS-UCD1.2 reference map as the most concordant with the genetic condition and the most likely cause. The single-base G to A substitution is in the coding region of the last exon of UCHL1, which is conserved across species."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Al-Khudhair et al. (2022): "Calves affected with JNS are unable to stand on splayed forelimbs that exhibit significant extensor rigidity and excessive lateral abduction at birth. Affected calves generally are alert at birth but exhibit neurologic symptoms, including spasticity of head and neck and convulsive behavior. Other symptoms reported include dislocated shoulders, congenital craniofacial anomalies, and degenerative myelopathy."

Prevalence: Al-Khudhair et al. (2022): "Currently 8.2% of the genotyped US Jersey population are carriers of the haplotype."

Breed: Jersey (Cattle) (VBO_0000250).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: