OMIA:001482-9940 : Neuronal ceroid lipofuscinosis, 5 in Ovis aries |
In other species: dog , cattle
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 256731 (trait) , 608102 (gene)
Links to MONDO diseases:
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, New Zealand (Sheep) (VBO_0016308).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CLN5 | ceroid-lipofuscinosis, neuronal 5 | Ovis aries | 10 | NC_056063.1 (52713507..52722777) | CLN5 | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 389 | Borderdale, New Zealand (Sheep) | Neuronal ceroid lipofuscinosis, 5 | CLN5 | splicing | Naturally occurring variant | Oar_rambouillet_v1.0 | 10 | g.56313269G>A | c.571+1G>A | rs422165326 | 2008 | 17988881 | The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries. |
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.
| 2023 | Murray, S.J., Almuqbel, M.M., Felton, S.A., Palmer, N.J., Myall, D.J., Shoorangiz, R., Ella, A., Keller, M., Palmer, D.N., Melzer, T.R., Mitchell, N.L. : |
| Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. Brain Commun 5:fcac339, 2023. Pubmed reference: 36632184 . DOI: 10.1093/braincomms/fcac339. | |
| 2022 | Banstola, A., Reynolds, J.N.J. : |
| The sheep as a large animal model for the investigation and treatment of human disorders. Biology (Basel) 11:1251, 2022. Pubmed reference: 36138730 . DOI: 10.3390/biology11091251. | |
| Eaton, S.L., Murdoch, F., Rzechorzek, N.M., Thompson, G., Hartley, C., Blacklock, B.T., Proudfoot, C., Lillico, S.G., Tennant, P., Ritchie, A., Nixon, J., Brennan, P.M., Guido, S., Mitchell, N.L., Palmer, D.N., Whitelaw, C.B.A., Cooper, J.D., Wishart, T.M. : | |
| Modelling neurological diseases in large animals: Criteria for model selection and clinical assessment. Cells 11:, 2022. Pubmed reference: 36078049 . DOI: 10.3390/cells11172641. | |
| Murray, S.J., Mitchell, N.L. : | |
| The translational benefits of sheep as large animal models of human neurological disorders. Front Vet Sci 9:831838, 2022. Pubmed reference: 35242840 . DOI: 10.3389/fvets.2022.831838. | |
| Murray, S.J., Mitchell, N.L. : | |
| Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses. Sci Rep 12:3670, 2022. Pubmed reference: 35256654 . DOI: 10.1038/s41598-022-07612-7. | |
| 2021 | Basak, I., Wicky, H.E., McDonald, K.O., Xu, J.B., Palmer, J.E., Best, H.L., Lefrancois, S., Lee, S.Y., Schoderboeck, L., Hughes, S.M. : |
| A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. Cell Mol Life Sci 78:4735-63, 2021. Pubmed reference: 33792748 . DOI: 10.1007/s00018-021-03813-x. | |
| Jolly, R.D., Dittmer, K.E., Jones, B.R., Worth, A.J., Thompson, K.G., Johnstone, A.C., Palmer, D.N., Van de Water, N.S., Hemsley, K.M., Garrick, D.J., Winchester, B.G., Walkley, S.U. : | |
| Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University. N Z Vet J 69:255-266, 2021. Pubmed reference: 33969809 . DOI: 10.1080/00480169.2021.1928564. | |
| Murray, S.J., Russell, K.N., Melzer, T.R., Gray, S.J., Heap, S.J., Palmer, D.N., Mitchell, N.L. : | |
| Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease. Exp Eye Res 207:108600, 2021. Pubmed reference: 33930398 . DOI: 10.1016/j.exer.2021.108600. | |
| Russell, K.N., Mitchell, N.L., Wellby, M.P., Barrell, G.K., Palmer, D.N. : | |
| Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses. Data Brief 37:107188, 2021. Pubmed reference: 34141843 . DOI: 10.1016/j.dib.2021.107188. | |
| 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