Neuropathy with splayed forelimbs, UCHL1-related
- Phene ID
- 4423
- Name
- Neuropathy with splayed forelimbs, UCHL1-related
- Phene Name
- Jersey neuropathy with splayed forelimbs
- OMIA ID
- 2298
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1409 | Neuropathy with splayed forelimbs | 388269384 | 1 | 6 | g.60158901G>A | c.979G>A | p.(E327K) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
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."
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."
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."