In other species: dog , horse , taurine cattle

Categories: Growth / size / body region phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611799 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: no

Markers: Saif et al. (2020) reported that "A search for signatures that are shared across large-sized goat breeds revealed that five medium-to-large-sized Pakistani goat breeds had a common selection signature on chromosome 6 in a region harboring the LCORL gene, which has been shown to modulate height or body size in several mammalian species. Fine-mapping of the region confirmed that all five goat breeds with the selection signature were nearly fixed for the same haplotype in a ~191 kb region spanning positions 37,747,447–37,938,449. From the pool sequencing data, we identified a frame-shifting single base insertion into an isoform-specific exon of LCORL as a potential candidate causal variant mediating the size-increasing effect." The variant can be designated as XM_018049322.1:c.828_829insA or XP_017904811.1:p.(Ser277Ilefs*38). The authors cautioned that this represents a preliminary finding. Proving the causality of this variant for the size increasing effect will require further studies (Saif et al., 2020).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Barbari (Goat) (VBO_0000728), Beetal (Goat) (VBO_0000729), Dera Din Panah, Pakistan (Goat) (VBO_0009774), Kamori (Goat) (VBO_0000783), Nachi, Pakistan (Goat) (VBO_0009786).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: