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

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 132400 (trait) , 183900 (trait) , 108300 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Inheritance: A segregation analysis conducted by Smit et al. (2011) provided evidence for autosomal recessive inheritance.

Markers: Using the comparative positional candidate gene strategy, Smit et al. (2011) investigated 8 candidate genes from three potential human homologous disorders (see MIM numbers above) in 8 affected and 14 related normal dogs, but could not find a causal mutation.

Breed: Labrador Retriever (Dog) (VBO_0200800).
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).