Categories: Skeleton phene (incl. short stature & teeth)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Mapping: Abrams et al. (2020) "conducted independent genomewide association studies in the small Shetland Sheepdog breed and discovered a locus on chromosome 9 that is associated with a dental abnormality called maxillary canine-tooth mesioversion (MCM) (P = 1.53 × 10−7) as well as two body size traits: height (P = 1.67 × 10−5) and weight (P = 1.16 × 10−7)"

Markers: Abrans et al. (2020): "Using whole-genome resequencing data, we identified variants in two proximal genes: FTSJ3, encoding an RNA methyltransferase, and GH1, encoding growth hormone. A substitution in FTSJ3 and a splice donor insertion in GH1 are strongly associated with MCM and reduced body size in Shetland Sheepdogs".

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

Clinical features: Abrams et al. 92020): "maxillary canine-tooth mesioversion (MCM) describes an upper canine tooth that is displaced forward toward the nose, also known as a lance canine . . . . One or both maxillary canines may be affected. MCM can cause traumatic occlusion, ulceration of the upper lip, and/or periodontal disease and may require extraction or orthodontic repositioning".

Breed: Shetland Sheepdog (Dog) (VBO_0201217).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below