OMIA:003085-9615 : Leukodystrophy, hypomyelinating, GJC2-related in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608803 (gene) , 613206 (trait) , 608804 (trait) , 613480 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Hajiri et al. (2026): "Genetic analysis of five affected [Toy Poodle] dogs identified a shared homozygous 14-base pair deletion in the GJC2 gene, XM_038556433.1:c.920_933del [omia.variant:1942]."
Clinical features: Hajiri et al. (2026) "Six juvenile-age Toy Poodle dogs exhibited coarse, vertical head and trunk tremors from immediately after birth. Conventional magnetic resonance imaging revealed uniform signal hyperintensities throughout the subcortical white matter in all dogs. All dogs were euthanized."
Pathology: Hajiri et al. (2026) "histopathological examination [of affected Toy Poodles] revealed vacuolar changes and demyelination in the cerebral and cerebellar white matter, leading to a diagnosis of HLD [ hypomyelinating leukodystrophy]."
Breed:
Poodle, Toy (Dog) (VBO_0201061).
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 |
|---|---|---|---|---|---|---|
| GJC2 | gap junction protein gamma 2 | Canis lupus familiaris | 14 | NC_051818.1 (539994..531302) | GJC2 | 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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1942 | Poodle, Toy (Dog) | Leukodystrophy, hypomyelinating | GJC2 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 14 | NC_049235.1:g.490062_490075del | XM_038556433.1:c.920_933del | XP_038412362.1:p. (A307Gfs*115) | 2026 | 42543680 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003085-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Hajiri, Y., Ueno, H., Tahara, G., Itoh, T., Nakayama, Y., Chambers, J.K., Uchida, K., Ohta, R., Ohwaki, M., Ohta, J. : |
| Gap junction protein gamma 2 (GJC2) gene frameshift deletion in Toy Poodles with hypomyelinating leukodystrophy resembling human Pelizaeus-Merzbacher-like disease 1. J Vet Med Sci , 2026. Pubmed reference: 42543680. DOI: 10.1292/jvms.25-0586. |
Edit History
- Created by Imke Tammen on 05 Oct 2026
- Changed by Imke Tammen on 05 Oct 2026