In other species: domestic horse , taurine cattle , goat

Categories: Growth / size / body region phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611799 (gene)

Single-gene trait/disorder: no

Mode of inheritance: Multifactorial

Disease-related: no

Key variant known: no

Markers: Plaissais et al. (2019) reported "a significant association at LCORL in the analysis of both SBW [standard breed weight] and SBH [standard breed weight] (pwald = 4.1 × 10−23 and 2.4 × 10−10, respectively), which are themselves highly correlated traits". A single A insertion into the last exon of the long isoform of LCORL was identified, XM_022416410.1:c.3661_3662insA. The insertion allele was not observed in small dog breeds (<10 kg), had a frequency of 0.16 in medium-sized dog breeds (10-41 kg) and a high frequency of 0.67 in large breeds (>41 kg; Plassais et al. 2019).
Buckley et al. (2025) discovered "two additional LCORL variants, both associated with canine body size ...: a frameshift [Chr 3: 91871030, AACAG/A; c.1978_1981delACAG] that causes a premature stop in large breeds (>25 kg) and an intronic substitution [c.525-14A>T] found in small breeds (<10 kg) ... .

Associated gene: