OMIA:002432-9913 : Neuronal ceroid lipofuscinosis, 3 in Bos taurus (taurine cattle) |
In other species: pig
Categories: Lysosomal storage disease , Vision / eye phene , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607042 (gene) , 204200 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN3; NCL3
Species-specific name: delayed-onset retinal degeneration
Inheritance: Reith et al. (2024): "All blind [Hereford] cattle shared a common ancestor through both the maternal and paternal pedigrees, suggesting a recessive genetic origin."
Molecular basis: Reith et al. (2024): "Whole-genome sequencing (WGS) of 7 blind cattle and 9 unaffected relatives revealed a 1-bp frameshift deletion in ceroid lipofuscinosis neuronal 3 (CLN3; chr25 g.26043843del) for which the blind cattle were homozygous and their parents heterozygous. The identified variant in exon 16 of 17 is predicted to truncate the encoded protein (p. Pro369Argfs*8) ... ."
Clinical features: Reith et al. (2024): "Thirteen American Hereford cattle were reported blind with presumed onset when ~12-mo-old. ... Ophthalmologic examinations of 5 blind cattle revealed retinal degeneration."
Pathology: Reith et al. (2024): "Histologically, 2 blind [Hereford] cattle had loss of the retinal photoreceptor layer."
Breed:
Hereford (Cattle) (VBO_0000232).
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 |
|---|---|---|---|---|---|---|
| CLN3 | ceroid-lipofuscinosis, neuronal 3 | Bos taurus | 25 | NC_037352.1 (26055273..26043064) | CLN3 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1669 | Hereford (Cattle) | Retinal degeneration, CLN3-realted | CLN3 | delins, small (<=20) | Naturally occurring variant | ARS-UCD1.3 | 25 | NC_037352.1:g.26043843del | NM_001075174.2:c.1106del | NP_001068642.2:p.(P369Rfs*8) | NM_001075174.2; NP_001068642.2 | rs5377951844 | 2024 | 38516801 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002432-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Reith, R.R., Batt, M.C., Fuller, A.M., Meekins, J.M., Diehl, K.A., Zhou, Y., Bedwell, P.S., Ward, J.A., Sanders, S.K., Petersen, J.L., Steffen, D.J. : |
| A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle. J Vet Diagn Invest 36:438-446, 2024. Pubmed reference: 38516801. DOI: 10.1177/10406387241239918. |
Edit History
- Created by Imke Tammen2 on 28 Mar 2024