OMIA 001703-9940 : Chondrodysplasia, Spider lamb in Ovis aries

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 100800 , 146000 , 187600 , 187601

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1998

Species-specific name: Spider-lamb syndrome

Species-specific description: This recessive skeletal disorder occurs in several black-faced breeds in the USA, and in Suffolks in Australia, New Zealand and Canada.

Mapping: A genome scan in two carrier X carrier families localised the gene to the distal end of chromosome 6 (Cockett et al., 1999)

Molecular basis: A study of genes known to cause chondrodysplasia in humans, combined with comparative mapping and studies with knockout mice all suggested fibroblast growth factor receptor 3 as a candidate gene. Starting with single-strand conformational polymorphism (SSCP) studies, and ending with sequencing, Beever et al. (1998) identified a single base substitution causing a non-conservative amino-acid substitution as the causative mutation. Full details of the mutation were reported by Beever et al. (2006).

Clinical features: Abnormally long, bent limbs and curvature of the spine

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FGFR3 fibroblast growth factor receptor 3 Ovis aries 6 NC_040257.1 (128797331..128782688) FGFR3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Suffolk Chondrodysplasia, Spider lamb FGFR3 missense c.1719T>A p.V700E 2006 16441300

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.
2008 Thompson, K.G., Piripi, S.A., Dittmer, K.E. :
Inherited abnormalities of skeletal development in sheep. Vet J 177:324-33, 2008. Pubmed reference: 17910925. DOI: 10.1016/j.tvjl.2007.08.015.
2006 Beever, JE., Smit, MA., Meyers, SN., Hadfield, TS., Bottema, C., Albretsen, J., Cockett, NE. :
A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep. Anim Genet 37:66-71, 2006. Pubmed reference: 16441300. DOI: 10.1111/j.1365-2052.2005.01398.x.
Smith, L.B., Dally, M.R., Sainz, R.D., Rodrigue, K.L., Oberbauer, A.M. :
Enhanced skeletal growth of sheep heterozygous for an inactivated fibroblast growth factor receptor 3. J Anim Sci 84:2942-9, 2006. Pubmed reference: 17032787. DOI: 10.2527/jas.2006-255.
2005 Drögemüller, C., Wöhlke, A., Distl, O. :
Spider Lamb Syndrome (SLS) mutation frequency in German Suffolk sheep. Anim Genet 36:539-40, 2005. Pubmed reference: 16293145. DOI: 10.1111/j.1365-2052.2005.01384.x.
1999 Cockett, N.E., Shay, T.L., Beever, J.E., Nielsen, D., Albretsen, J., Georges, M., Peterson, K., Stephens, A., Vernon, W., Timofeevskaia, O., South, S., Mork, J., Maciulis, A., Bunch, T.D. :
Localization of the locus causing Spider Lamb Syndrome to the distal end of ovine Chromosome 6 Mammalian Genome 10:35-38, 1999. Pubmed reference: 9892730.
1998 Beever, J.E., Shay, T.L., Albretson, J., Maciulis, A., Bunch, T.D., Holyoak, G.R., Cockett, N.E. :
Identification of the causative mutation in ovine hereditary chondrodysplasia [abstract] Plant & Animal Genome VI :abstract W21, 1998.
1995 Oberbauer, A.M., East, N.E., Pool, R., Rowe, J.D., Bondurant, R.H. :
Developmental progression of the spider lamb syndrome Small Ruminant Research 18:179-184, 1995.
West, D.M., Burbidge, H.M., Vermunt, J.J., Arthur, D.G. :
Hereditary chondrodysplasia (''spider syndrome'') in a New Zealand Suffolk lamb of American origin New Zealand Veterinary Journal 43:118-122, 1995.
1994 Nakano, T., Walker, B., Young, B.A. :
Analysis of Tissues from Normal Lambs and Those with Spider Syndrome Canadian Journal of Animal Science 74:583-585, 1994.
1993 Phillips, P.H., Bunn, C.M., Anderson, C.E. :
Ovine Hereditary Chondrodysplasia (Spider Syndrome) in Suffolk Lambs Australian Veterinary Journal 70:73-74, 1993. Pubmed reference: 8457181.
1992 Osborne, JM., Thomas, DL., White, ME. :
Insulin-like growth factor-I levels and gene expression in ovine hereditary chondrodysplasia (spider lamb syndrome). Domest Anim Endocrinol 9:25-35, 1992. Pubmed reference: 1582196.
1991 Owen, J.B., Axford, R.F.E. :
Spider and Other Major Genes in Farm Livestock Breeding for Disease Resistance in Farm Animals (eds J.B. Owen and R.F. Axford) chap 25:439-448, 1991.
1990 Basrur, P.K., Yadav, B.R. :
Genetic Diseases of Sheep and Goats Veterinary Clinics of North America-Food Animal Practice 6:779-802, 1990. Pubmed reference: 2245374.
Vanniekerk, F.E., Vanniekerk, C.H., Reid, G., Coetzee, J. :
The Bent-Leg Syndrome in Sheep .2. Association with Genetic Markers Journal of the South African Veterinary Association-Tydskrif Van Die Suid-Afrikaanse Veterinere Vereniging 61:151-154, 1990.
1989 Vanek, J.A., Walter, P.A., Alstad, A.D. :
Radiographic diagnosis of hereditary chondrodysplasia in newborn lambs. J Am Vet Med Assoc 194:244-8, 1989. Pubmed reference: 2917891.
1988 Rook, J.S., Trapp, A.L., Krehbiel, J., Yamini, B., Benson, M. :
Diagnosis of hereditary chondrodysplasia (spider lamb syndrome) in sheep. J Am Vet Med Assoc 193:713-8, 1988. Pubmed reference: 3056891.
Thomas, D.L., Cobb, A.R., Waldron, D.F. :
Spider syndrome - a genetic defect found in American Suffolk sheep Proceedings of the 3rd World Congress on Sheep and Beef Cattle Breeding, Paris, France 1:649-651, 1988.
Troyer, DL., Thomas, DL., Stein, LE. :
A morphologic and biochemical evaluation of the spider syndrome in Suffolk sheep. Anat Histol Embryol 17:289-300, 1988. Pubmed reference: 3223600.
Vanek, J.A., Bleier, W.J., Whited, D.A., Alstad, A.D. :
Comparison of G-banded chromosomes from clinically normal lambs and lambs affected with ovine hereditary chondrodysplasia (spider syndrome) American Journal of Veterinary Research 49:1164-1168, 1988. Pubmed reference: 3262324.
1987 Vanek, J.A., Walter, P.A., Alstad, A.D. :
Comparing spider syndrome in Hampshire and Suffolk sheep Veterinary Medicine 82:430-433, 1987.
1986 Millot, P. :
Bent-limb disease in lambs. Apparent transmission with an autosomal recessive gene linked to the OL-Z minor lymphocyte antigen locus and the I locus involved in the expression of R and O antigens in sheep Journal of Immunogenetics 13:341-348, 1986. Pubmed reference: 3559253.
Rook, J.S., Kopcha, M., Spaulding, K., Coe, P., Benson, M., Krehbiel, J., Trapp, A.L. :
The spider syndrome: a report on one purebred flock Compendium on Continuing Education for the Practicing Veterinarian 8:S402-S405, 1986.
Vanek, J.A., Alstad, A.D., Berg, I.E., Misek, A.R., Moore, B.L., Limesand, W. :
Spider syndrome in lambs: a clinical and postmortem analysis Veterinary Medicine 81:663-338, 1986.
1978 Hidiroglou, M., Dukes, T.W., Ho, S.K., Heaney, D.P. :
Bent-limb syndrome in lambs raised in total confinement Journal of the American Veterinary Medicine Association 173:1571-1574, 1978.

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  • Created by Frank Nicholas on 06 Jul 2012
  • Changed by Frank Nicholas on 14 Sep 2012
  • Changed by Frank Nicholas on 28 Apr 2016