In other species: sheep

Categories: Nervous system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Mapping: From a GWAS of 46 Holstein AI bulls affected with bovine spastic paresis (BSP) and/or bovine spastic syndrome (BSS), and 213 unspecified control cattle, each genotyped with the BovineLD BeadChip, yielding 9,092 markers, Krull et al. (2020) identified four QTL on chromosome BTA15, and one each on BTA8 and BTA19.

Markers: Whole-genome sequencing of "one affected sire and his two full brothers (one known to be unaffected), two further affected sires and their respective parents, and the affected grandfather (mother's father) of one of these" enabled Krull et al. (2020) to identify a potential marker at BTA15:g.78135822_78135823insC (UMD3.1). However, even allowing for the relatively late onset of this disorder, the high frequency of this variant (73.7%) in 3,093 animals from the 1000 Bull Genomes Project suggests that more work is required before this variant is put to any use as a marker for BSS/BSP.

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

Prevalence: Krull et al. (2020): "An allele frequency of the [g.78135822_78135823insC] variant of 0.74 was determined in 3,093 samples of the 1000 Bull Genomes Project."