OMIA 001482-9940 : Neuronal ceroid lipofuscinosis, 5 in Ovis aries |
In other species:
dog
,
cattle
Possibly relevant human trait(s) and/or gene(s) (MIM number):
256731
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2008
History:
This disorder in sheep was first reported by Jolly et al. (2002) in Borderdale breed in New Zealand.
Molecular basis:
Using the comparative positional candidate gene approach, Frugier et al. (2008) discovered the causative mutation in the Borderdale breed to be "a substitution at a consensus splice site (c.571+1G>A) [of the CLN5 gene], leading to the excision of exon 3 and a truncated putative protein."
Breed:
Borderdale.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CLN5 | ceroid-lipofuscinosis, neuronal 5 | Ovis aries | 10 | NC_019467.2 (52529046..52538240) | CLN5 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Borderdale | Neuronal ceroid lipofuscinosis, 5 | CLN5 | splicing | c.571+1G>A | 2008 | 17988881 |
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.
| 2018 | Mitchell, N.L., Russell, K.N., Wellby, M.P., Wicky, H.E., Schoderboeck, L., Barrell, G.K., Melzer, T.R., Gray, S.J., Hughes, S.M., Palmer, D.N. : | |
| Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease. Mol Ther :, 2018. Pubmed reference: 30078766. DOI: 10.1016/j.ymthe.2018.07.015. | ||
| Russell, K.N., Mitchell, N.L., Anderson, N.G., Bunt, C.R., Wellby, M.P., Melzer, T.R., Barrell, G.K., Palmer, D.N. : | ||
| Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. Brain Behav :e01096, 2018. Pubmed reference: 30136763. DOI: 10.1002/brb3.1096. | ||
| 2015 | Amorim, I.S., Mitchell, N.L., Palmer, D.N., Sawiak, S.J., Mason, R., Wishart, T.M., Gillingwater, T.H. : | |
| Molecular neuropathology of the synapse in sheep with CLN5 Batten disease. Brain Behav 5:e00401, 2015. Pubmed reference: 26664787. DOI: 10.1002/brb3.401. | ||
| Palmer, D.N., Neverman, N.J., Chen, J.Z., Chang, C.T., Houweling, P.J., Barry, L.A., Tammen, I., Hughes, S.M., Mitchell, N.L. : | ||
| Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. Biochim Biophys Acta 1852:2279-86, 2015. Pubmed reference: 26073432. DOI: 10.1016/j.bbadis.2015.06.013. | ||
| Perentos, N., Martins, A.Q., Watson, T.C., Bartsch, U., Mitchell, N.L., Palmer, D.N., Jones, M.W., Morton, A.J. : | ||
| Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep. Brain 138:862-74, 2015. Pubmed reference: 25724202. DOI: 10.1093/brain/awv026. | ||
| 2014 | Hughes, S.M., Hope, K.M., Xu, J.B., Mitchell, N.L., Palmer, D.N. : | |
| Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy. Neurobiol Dis 62:543-50, 2014. Pubmed reference: 24269732. DOI: 10.1016/j.nbd.2013.11.011. | ||
| 2013 | Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. : | |
| Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009. | ||
| 2008 | Frugier, T., Mitchell, NL., Tammen, I., Houweling, PJ., Arthur, DG., Kay, GW., van Diggelen, OP., Jolly, RD., Palmer, DN. : | |
| A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. Neurobiol Dis 29:306-15, 2008. Pubmed reference: 17988881. DOI: 10.1016/j.nbd.2007.09.006. | ||
| 2002 | Jolly, R.D., Arthur, D.G., Kay, G.W., Palmer, D.N. : | |
| Neuronal ceroid-lipofuscinosis in Borderdale sheep New Zealand Veterinary Journal 50:199-202, 2002. |
Edit History
- Created by Frank Nicholas on 02 Dec 2009
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 20 Aug 2013