Categories: Nervous system phene , Muscle phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600128 (gene)

Links to MONDO diseases: No links.

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."

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

Breed: French Bulldog (Dog) (VBO_0201455).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below