OMIA:001703-9940 : Chondrodysplasia, FGFR3-related in Ovis aries (sheep) |
In other species: taurine cattle
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 100800 (trait) , 146000 (trait) , 187600 (trait) , 187601 (trait) , 134934 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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
Breed:
Suffolk (Sheep) (VBO_0001627).
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | Ovis aries | 6 | NC_056059.1 (117469369..117451863) | FGFR3 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 225 | Suffolk (Sheep) | Chondrodysplasia, Spider lamb | FGFR3 | missense | Naturally occurring variant | Oar_rambouillet_v1.0 | 6 | g.128784747A>T | c.1719T>A | p.(V700E) | 2006 | 16441300 | The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001703-9940: 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.
| 2021 | Derks, M.F.L., Steensma, M. : |
| Review: Balancing selection for deleterious alleles in livestock. Front Genet 12:761728, 2021. Pubmed reference: 34925454. DOI: 10.3389/fgene.2021.761728. | |
| 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 Mamm Genome 10:35-8, 1999. Pubmed reference: 9892730. DOI: 10.1007/s003359900938. | |
| 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 Aust Vet J 70:73-4, 1993. Pubmed reference: 8457181. DOI: 10.1111/j.1751-0813.1993.tb15150.x. | |
| 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. DOI: 10.1016/0739-7240(92)90006-j. | |
| 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. Vet Clin North Am Food Anim Pract 6:779-802, 1990. Pubmed reference: 2245374. DOI: 10.1016/s0749-0720(15)30846-x. | |
| 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. DOI: 10.1111/j.1439-0264.1988.tb00567.x. | |
| 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) Am J Vet Res 49:1164-8, 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 J Immunogenet 13:341-8, 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. |
Edit History
- Created by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 14 Sep 2012
- Changed by Frank Nicholas on 28 Apr 2016
- Changed by Imke Tammen2 on 23 Jun 2023