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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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 607042 (gene) , 204200 (trait)

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: 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) ... ."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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. For breeds in which a likely causal variant has been documented, see the variant table below

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

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.

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
1669 Hereford (Cattle) Retinal degeneration, CLN3-realted CLN3 delins, small (<=20) Naturally occurring variant ARS-UCD1.2 25 g.26043843del c.1106del p.(P369Rfs*8) NM_001075174.2; NP_001068642.2 rs5377951844 2024 38516801
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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 :10406387241239918, 2024. Pubmed reference: 38516801. DOI: 10.1177/10406387241239918.

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  • Created by Imke Tammen2 on 28 Mar 2024