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OMIA 000939-9913 : Spinal muscular atrophy in Bos taurus

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 253300 (trait) , 253550 (trait) , 253400 (trait) , 271150 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Information relating to spinal muscular atrophy in Braunvieh has been moved to: OMIA 002390-9913 : Spinal muscular atrophy, KDSR-related in Bos taurus

Molecular basis: Cagnotti et al. (2020) reported that spinal muscular atrophy in an Italian family of the Blonde d'Aquitaine breed is not due to any mutation in FVT1/KDSR. A likely causal variant in the KDSR gene has been reported for spinal muscular atrophy in Braunvieh (Krebs et al., 2007; OMIA 002390-9913 : Spinal muscular atrophy, KDSR-related in Bos taurus).

References


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.
2020 Cagnotti, G., Cantile, C., Chessa, S., Sacchi, P., D'Angelo, A., Bellino, C. :
Spinal muscular atrophy in Blonde D'Aquitaine calves is not associated with FVT1 gene mutation. Front Vet Sci 7:348, 2020. Pubmed reference: 32714947. DOI: 10.3389/fvets.2020.00348.
2007 Krebs, S., Medugorac, I., Röther, S., Strässer, K., Förster, M. :
A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. Proc Natl Acad Sci U S A 104:6746-51, 2007. Pubmed reference: 17420465. DOI: 10.1073/pnas.0607721104.
2003 Longeri, M., Perrone, T., Bongioni, G., Bona, M., Zanotti, M., Galli, A. :
Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese) Genetics Selection Evolution 35:S167-75, 2003.
Siso, S., Pumarola, M., Ferrer, I. :
Cell death and decreased synaptic protein expression in the ventral horn of Holstein-Friesian calves with spinal muscular atrophy Journal of Comparative Pathology 128:132-9, 2003. Pubmed reference: 12634090.
1999 Jull, B.A., Patton, C.S., Haffner, J. :
Lower motor neuronopathy in a Dutch Belted-Sembra bull Journal of Veterinary Diagnostic Investigation 11:177-179, 1999. Pubmed reference: 10098692.

Edit History


  • Created by Frank Nicholas on 08 Sep 2008
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 12 Jun 2013
  • Changed by Frank Nicholas on 31 Oct 2014
  • Changed by Frank Nicholas on 24 Mar 2015
  • Changed by Frank Nicholas on 15 Aug 2016
  • Changed by Frank Nicholas on 05 Aug 2020
  • Changed by Imke Tammen2 on 19 Aug 2021