Phenotypes
Sperm, decapitated
No summary available.
Sperm, short tail — Also known as stump sperm defect; one form of multiple morphological abnormalities of t...
FN thanks Hubert Pausch for advice on updating this entry.
Spermatogenic failure, QRICH2-related — low sperm count and immotile sperm with multiple morphological abnormalities
Hiltpold et al. (2022) investigated a Brown Swiss bull with low semen quality: "The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a f...
Spherocytosis — BAND3 deficiency
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Inaba et al. (1996) showed in a population of Japanese Black cattle, that this disorder is due to a nonsense mutation (CGA>TGA; Arg>Stop) in the gene for band 3 of red cell membrane, at the position corresponding to codon 646 of the human gene. The lack of this protein produces very unstable red-cell membranes, resulting in anaemi...
Spina bifida
No summary available.
Spina bifida with myelomeningocele
No summary available.
Spinal dysmyelination — Bovine spinal dysmyelination; Haplotype BHD
Thomsen et al. (2010) showed that this disorder is due to a missense mutation (R560Q) at a site that is invariant from insects to mammals in the gene encoding spastin (SPAST or SPG4). In their table of reduced-fertility haplotypes, Cole et al. (2014) list this SPAST mutation as being the causal mutation for haplotype BHD.
Spinal dysraphism
No summary available.
Spinal muscular atrophy
Information relating to spinal muscular atrophy in Braunvieh has been moved to: OMIA 002390-9913 : Spinal muscular atrophy, KDSR-related in Bos taurus
Spinal muscular atrophy, KDSR-related — Haplotype BHM
By examining three comparative positional candidate genes from their mapping results (see Mapping section), Krebs et al. (2007) reported strong evidence that this disorder in cattle is due to a mutation in "FVT1, encoding 3-ketodihydrosphingosine reductase, which catalyzes a crucial step in the glycosphingolipid metabolism". Specifically, the mutation is "a G-to-A missense mutation that changes Ala-175 to Thr". Interestingly, the FVT1 gene, of...
Split spinal cord malformation type I
No summary available.
Split spinal cord malformation type II
No summary available.
Spongiform encephalopathy, susceptibility/resistance to — Bovine spongiform encephalopathy; Mad Cow Disease
Richt and Hall (2008) "identified a novel mutation in the bovine prion protein gene (Prnp), called E211K, of a confirmed BSE positive cow from Alabama, United States of America. This mutation is identical to the E200K pathogenic mutation found in humans with a genetic form of CJD. This finding represents the first report of a confirmed case of BSE with a potential pathogenic mutation within the bovine Prnp gene. We hypothesize that the bovine ...
Spongiform myelopathy
No summary available.
Stature, PLAG1-related
Utsunomiya et al. 2017: "Using haplotype analysis, we found evidence that the bovine PLAG1 mutation (Q) with major effects on body size, weight and reproduction is a >1,000 years old derived allele that increased rapidly in frequency in Northwestern European B. taurus between the 16th and 18th centuries. Towards the 19th and 20th centuries, Q was introgressed into non-European B. taurus and Bos indicus breeds. These data implicate a major r...