OMIA:003056-9615 : Myopathy, creatine deficiency disorder, GATM-related in Canis lupus familiaris (dog) |
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602360 (gene) , 612718 (trait) , 134600 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Leonardi et al. (2026) report 3 dogs from the same litter wiht myopathy. Whole genome sequencing identified a likely causal missense variant in GATM (NP 001274013.1:p.R414C, omia.variant:1899).
Clinical features:
Leonardi et al. (2026): "Clinical signs included megaesophagus with generalized muscle atrophy in both affected dogs. One dog showed exercise intolerance. Computed tomography (CT) scan revealed bilateral and symmetrical diffuse hypoattenuating muscle lesions. Electromyography was characterized by nonspecific abnormal spontaneous activity in electrodiagnostically affected muscles. ... All clinical signs improved after 3 days of creatine (800-1500 mg/kg/day) and
L-carnitine (80-150 mg/kg) supplementation and remained stable at the time of writing 4 months after diagnosis."
Pathology: Leonardi et al. (2026): "Type2 fiber atrophy and excessive intramyofiber lipid droplets in type1muscle fibers were the predominant findings in histopathology."
Breed:
Mixed Breed (Dog) (VBO_0200902).
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 |
|---|---|---|---|---|---|---|
| GATM | glycine amidinotransferase | Canis lupus familiaris | 30 | NC_051834.1 (11879299..11861543) | GATM | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1899 | Mixed Breed (Dog) | Myopathy, GATM-related | GATM | substitution | missense | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 30 | NC_049251.1:g.12010480G>A | NM_001287084.1:c.1240C>T | NP_001274013.1:p.(R414C) | 2026 | 41742483 |
* 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:003056-9615: 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.
| 2026 | [No authors listed] : |
| Correction to: Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. J Vet Intern Med 40:aalag102, 2026. Pubmed reference: 42089721. DOI: 10.1093/jvimsj/aalag102. | |
| Leonardi, H., Minor, K.M., Fritz, J., Friedenberg, S.G., Cullen, J.N., Guo, L.T., Shelton, G.D. : | |
| Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. J Vet Intern Med 40:aalaf055, 2026. Pubmed reference: 41742483. DOI: 10.1093/jvimsj/aalaf055. |
Edit History
- Created by Imke Tammen2 on 08 May 2026
- Changed by Imke Tammen2 on 08 May 2026