Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 132400 , 183900 , 108300

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.