OMIA:001247-9913 : Spinal dysmyelination in Bos taurus (taurine cattle)
Categories: Nervous system phene
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: 2010
Species-specific name: Bovine spinal dysmyelination; Haplotype BHD
Species-specific symbol: BSD; BHD
Mapping: Nissen et al. (2001) mapped the locus for this disorder to BTA11.
Molecular basis: 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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Brown Swiss (Cattle) (VBO_0000166).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SPAST||spastin||Bos taurus||11||NC_037338.1 (14696373..14753291)||SPAST||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|206||Brown Swiss (Cattle)||Spinal dysmyelination||SPAST||missense||Naturally occurring variant||ARS-UCD1.2||11||g.14742184G>A||c.1964G>A||p.(R560Q)||rs445770480||rs445770480||2010||19714378||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :|
|Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.|
|2016||Cole, J.B., Null, D.J., VanRaden, P.M. :|
|Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. J Dairy Sci 99:7274-88, 2016. Pubmed reference: 27394947. DOI: 10.3168/jds.2015-10777.|
|2014||Cole, J.B., VanRaden, P.M., Null, D.J., Hutchison, J.L., Cooper, T.A., Hubbard, S.M. :|
|Haplotype tests for recessive disorders that affect fertility and other traits. AIP RESEARCH REPORT GENOMIC3 (09-13); http://aipl.arsusda.gov/reference/recessive_haplotypes_ARR-G3.html , 2014.|
|2010||Thomsen, B., Nissen, PH., Agerholm, JS., Bendixen, C. :|
|Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene. Neurogenetics 11:175-183, 2010. Pubmed reference: 19714378. DOI: 10.1007/s10048-009-0214-0.|
|2009||Manatrinon, S., Egger-Danner, C., Baumung, R. :|
|Estimating lethal allele frequencies in complex pedigrees via gene dropping approach using the example of Brown Swiss cattle Archiv fur Tierzucht 52:230-242, 2009.|
|2003||Nissen, PH., Thomsen, B., Offenberg, H., Thomsen, PD., Bendixen, C. :|
|Cloning and characterization of the bovine EGR4 gene and evaluation as candidate gene for bovine spinal dysmyelination. Anim Genet 34:124-31, 2003. Pubmed reference: 12648095.|
|2001||Nissen, P.H., Shukri, N.M., Agerholm, J.S., Fredholm, M., Bendixen, C. :|
|Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle to bovine Chromosome 11 Mammalian Genome 12:180-182, 2001. Pubmed reference: 11210192.|
|1999||Nissen, P.H., Shukri, N.M., Agerholm, J.S., Fredholm, M., Bendixen, C. :|
|Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle Archiv fur Tierzucht-Archives of Animal Breeding 42:170-171, 1999.|
|1996||Stocker, H., Pusterla, J.B., Lutz, H., Ossent, P. :|
|A new hereditary disease Braunvieh in Switzerland - spinal dysmyelination (sdm) in newborn calves Schweizer Archiv fur Tierheilkunde 138:295-300, 1996. Pubmed reference: 8765544.|
|1995||Agerholm, J.S., Andersen, O. :|
|Inheritance of spinal dysmyelination in calves Zentralbl Veterinarmed A. 42:9-12, 1995. Pubmed reference: 8592883.|
|1994||Agerholm, J.S., Hafner, A., Olsen, S., Dahme, E. :|
|Spinal dysmyelination in cross-bred Brown Swiss calves Journal of Veterinary Medicine - Series A 41:180-188, 1994. Pubmed reference: 7941834.|
|1993||Hafner, A., Dahme, E., Obermaier, G., Schmidt, P., Dirksen, G. :|
|Spinal dysmyelination in new-born Brown Swiss x Braunvieh calves. Zentralbl Veterinarmed B 40:413-422, 1993. Pubmed reference: 8284954.|
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