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OMIA:000939-9615 : Spinal muscular atrophy in Canis lupus familiaris (dog)

In other species: domestic cat , taurine cattle

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 253300 (trait) , 253550 (trait) , 253400 (trait) , 271150 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: no

Breed: Brittany Spaniel (Dog) (VBO_0200239).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000939-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2012 Sumner, C.J. :
Spinal muscular atrophy, John Griffin, and mentorship. J Peripher Nerv Syst 17 Suppl 3:52-6, 2012. Pubmed reference: 23279433. DOI: 10.1111/j.1529-8027.2012.00432.x.
2005 Green, SL., Westendorf, JM., Jaffe, H., Pant, HC., Cork, LC., Ostrander, EA., Vignaux, F., Ferrell, JE. :
Allelic variants of the canine heavy neurofilament (NFH) subunit and extensive phosphorylation in dogs with motor neuron disease. J Comp Pathol 132:33-50, 2005. Pubmed reference: 15629478. DOI: 10.1016/j.jcpa.2004.06.003.
2001 Green, S.L., Bouley, D.M., Pinter, M.J., Cork, L.C., Vatassery, G.T. :
Canine motor neuron disease: Clinicopathologic features and selected indicators of oxidative stress Journal of Veterinary Internal Medicine 15:112-119, 2001. Pubmed reference: 11300593.
2000 Balice-Gordon, R.J., Smith, D.B.J., Goldman, J., Cork, L.C., Shirley, A., Cope, T.C., Pinter, M.J. :
Functional motor unit failure precedes neuromuscular degeneration in canine motor neuron disease Annals of Neurology 47:596-605, 2000. Pubmed reference: 10805330.
1998 Blazej, R.G., Mellersh, C.S., Cork, L.C., Ostrander, E.A. :
Hereditary canine spinal muscular atrophy is phenotypically similar but molecularly distinct from human spinal muscular atrophy Journal of Heredity 89:531-537, 1998. Pubmed reference: 9864863.
Green, S.L., Vulliet, P.R., Pinter, M.J., Cork, L.C. :
Alterations in cyclin-dependent protein kinase 5 (CDK5) protein levels, activity and immunocytochemistry in canine motor neuron disease Journal of Neuropathology & Experimental Neurology 57:1070-1077, 1998.
1997 Cork, L.C., Green, S.L., Pinter, M.J. :
Hereditary canine spinal muscular atrophy - genetics, neurophysiology, and pathology Journal of the Neurological Sciences 152:S 74, 1997.
1995 Pinter, M.J., Waldeck, R.F., Wallace, N., Cork, L.C. :
Motor unit behavior in canine motor neuron disease Journal of Neuroscience 15:3447-3457, 1995. Pubmed reference: 7751923.
1993 Muma, N.A., Cork, L.C. :
Alterations in Neurofilament Messenger RNA in Hereditary Canine Spinal Muscular Atrophy Laboratory Investigation 69:436-442, 1993. Pubmed reference: 8231111.
Tsai, G.C., Cork, L.C., Slusher, B.S., Price, D., Coyle, J.T. :
Abnormal Acidic Amino Acids and N-Acetylaspartylglutamate in Hereditary Canine Motoneuron Disease Brain Research 629:305-309, 1993. Pubmed reference: 8111634.
1991 Cork, L.C. :
Hereditary Canine Spinal Muscular Atrophy - An Animal Model of Motor Neuron Disease Canadian Journal of Neurological Sciences 18:432-434, 1991. Pubmed reference: 1933694.
1990 Cork, L.C., Price, D.L., Griffin, J.W., Sack, G.H. :
Hereditary Canine Spinal Muscular Atrophy - Canine Motor Neuron Disease Canadian Journal of Veterinary Research-Revue Canadienne de Recherche Veterinaire 54:77-82, 1990. Pubmed reference: 2306675.
1989 Cork, L.C., Altschuler, R.J., Bruha, P.J., Morris, J.M., Lloyd, D.G., Loats, H.L., Griffin, J.W., Price, D.L. :
Changes in Neuronal Size and Neurotransmitter Marker in Hereditary Canine Spinal Muscular Atrophy Laboratory Investigation 61:69-76, 1989. Pubmed reference: 2568515.
Cork, L.C., Struble, R.G., Gold, B.G., Dicarlo, C., Fahnestock, K.E., Griffin, J.W., Price, D.L. :
Changes in Size of Motor Axons in Hereditary Canine Spinal Muscular Atrophy Laboratory Investigation 61:333-342, 1989. Pubmed reference: 2770248.
Cummings, J.F., George, C., Delahunta, A., Valentine, B.A., Bookbinder, P.F. :
Focal Spinal Muscular Atrophy in 2 German Shepherd Pups Acta Neuropathologica 79:113-116, 1989. Pubmed reference: 2589019.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 24 Sep 2013
  • Changed by Frank Nicholas on 15 May 2020