In other species: domestic cat , cattle , chicken , dog , turkey , domestic guinea pig , goat , guanaco , Arabian camel , Western roe deer , horse , springbok , rock pigeon , sheep , llama , alpaca

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 174500 (trait) , 605522 (gene) , 188740 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Often called preaxial polydactyly (PPD)

Inheritance: Gorbach et al. (2010) provided convincing data that this disorder is inherited but could find no evidence of a single gene of large effect. A whole-genome scan with a SNP chip identified a 25 Mb region on chromosome SSC5 that appears to play some role in the development of this disorder.

Nikitin et al. (2021) report polydactyly in mini-pigs with a likely recessive mode of inheritance.

Mapping: Ma et al. (2020) sequenced "two PPD [preaxial polydactyly][Large White] families consisting of four affected and 20 normal individuals ... A strong association was identified at ABCC4 and it encodes a transmembrane protein involved in ciliogenesis. We found that the affected and normal individuals were highly differentiated at ABCC4, and all the PPD individuals shared long haplotype stretches as compared with the unaffected individuals. A highly differentiated missense mutation (I85T) in ABCC4 was observed at a residue from a transmembrane domain highly conserved among a variety of organisms."

Molecular basis: Ma et al. (2020) sequenced "two PPD [preaxial polydactyly][Large White] families consisting of four affected and 20 normal individuals ... A strong association was identified at ABCC4 and it encodes a transmembrane protein involved in ciliogenesis. We found that the affected and normal individuals were highly differentiated at ABCC4, and all the PPD individuals shared long haplotype stretches as compared with the unaffected individuals. A highly differentiated missense mutation (I85T) in ABCC4 was observed at a residue from a transmembrane domain highly conserved among a variety of organisms."

Breed: Large White.