Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610575 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: no

Key variant known: yes

Year key variant first reported: 2010

Species-specific symbol: IC

Molecular basis: Parker et al. (2010) investigated “improper coat” (IC) in the Portuguese Water Dog. Affected dogs have "short hair on the head, face, and lower legs, rather than a thick and even coat covering the whole body".  The authors found that the presence of two copies of the wild-type allele, rather than the expected and previously reported variant allele in RSPO2  (omia.variant:703; Cadieu et al., 2009) causes IC. The variant was previously listed in this entry as a new variant (omia.variant:707) but based on feedback from Katarina Šojić information in the variant table has been updated to show that this in the same variant as reported by Cadieu et al. (2009) [25/08/2025]. See OMIA:001531-9615 : Furnishings (moustache and eyebrows) in Canis lupus familiaris (dog) for additional detail.

Breed: Portuguese Water Dog (Dog) (VBO_0201077).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: