OMIA:002839-9615 : Muscle hypertrophy, dysphagia, and gait abnormalities in Canis lupus familiaris (dog)

Categories: Nervous system phene , Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600128 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Shelton et al. (2024) describe 4 French Bulldogs with muscle hypertrophy, swallowing disorders, and gait abnormalities. Two of the dogs had a likely causal variant in the CLCN1 gene (see OMIA:000698-9615 : Myotonia in Canis lupus familiaris for details). Whole genome sequencing in one dog identified a variant in "PDE4C [c15dup; XP_038422764.1:p.A6Rfs*46], which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. In one case for which whole genome sequencing was not performed, genotyping for the identified variants was not confirmed."

Breed: French Bulldog (Dog) (VBO_0201455).
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).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002839-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2024 Shelton, G.D., Mickelson, J.R., Friedenberg, S.G., Cullen, J.N., Graham, K., Carpentier, M.C., Guo, L.T., Minor, K.M. :
Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) 14:722, 2024. Pubmed reference: 38473107. DOI: 10.3390/ani14050722.

Edit History

  • Created by Imke Tammen2 on 08 Apr 2024
  • Changed by Imke Tammen2 on 08 Apr 2024