OMIA:002055-9615 : Degenerative encephalopathy, RB1CC1-related in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606837 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Cross-species summary: Renamed from 'Degenerative encephalopathy' to 'Degenerative encephalopathy, RB1CC1-related' [16/04/2025]

History: This disorder was first described by Barker et al. (2016)

Inheritance: "Genealogical analysis supports an autosomal recessive mode of inheritance." (Barker et al., 2016)

Molecular basis: Guo et al. (2025): "Whole genome sequences (WGSs) from the DNA of affected and unaffected Nova Scotia Duck Tolling Retrievers were aligned to the Dog10K_Boxer_Tasha reference genome assembly and to the WGSs of 334 additional control dogs generated by this laboratory. ... A missense C>T variant [omia.variant:1780] was identified in RB1CC1 exon 22 chromosome 29:4891014 that was uniquely homozygous in the affected dog. This variant predicts a p.G1503R change in the amino acid sequence of RB1CC1. Genotyping of 2950 Nova Scotia Duck Tolling Retrievers at the variant locus found complete concordance between the disease phenotype and RB1CC1 genotype."

Clinical features: As summarised by Barker et al. (2016): "Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases."

Pathology: Barker et al. (2016): "Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord."

Breed: Nova Scotia Duck Tolling Retriever (Dog) (VBO_0200964).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RB1CC1 RB1 inducible coiled-coil 1 Canis lupus familiaris 29 NC_051833.1 (4608379..4511613) RB1CC1 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 Variant Type Variant Effect Source of Genetic Variant Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1780 Nova Scotia Duck Tolling Retriever (Dog) Encephalopathy, degenerative RB1CC1 substitution missense Naturally occurring variant Not currently ISAG evaluated Dog10K_Boxer_Tasha 29 NC_006611.4:g.4891014C>T XM_014109241.3:c.4507G>A XP_013964716.1:p.(G1503R) 2025 40149422

* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee

Contact us

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002055-9615: 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.

2025 Guo, J., Bullock, G., O'Brien, D.P., Johnson, G.S., Katz, M.L. :
An RB1CC1 missense variant in Nova Scotia Duck Tolling Retrievers with degenerative encephalopathy. Genes (Basel) 16:269, 2025. Pubmed reference: 40149422. DOI: 10.3390/genes16030269.
2016 Barker, E.N., Dawson, L.J., Rose, J.H., Van Meervenne, S., Frykman, O., Rohdin, C., Leijon, A., Soerensen, K.E., Järnegren, J., Johnson, G.C., O'Brien, D.P., Granger, N. :
Degenerative encephalopathy in Nova Scotia Duck Tolling Retrievers presenting with a rapid eye movement sleep behavior disorder. J Vet Intern Med 30:1681-1689, 2016. Pubmed reference: 27717189. DOI: 10.1111/jvim.14575.

Edit History


  • Created by Frank Nicholas on 17 Oct 2016
  • Changed by Frank Nicholas on 17 Oct 2016
  • Changed by Imke Tammen2 on 16 Apr 2025