Hemimelia, tibial

Phene ID

1740

Name

Hemimelia, tibial

Phene Name

N/A

OMIA ID

1009

Species ID

9913

Characterised

Yes

Characterised Year

2012

See also: 'OMIA:001009-9915 : Hemimelia, tibial in Bos indicus'

A deletion of around 45,694 bp including exon 1 of ALX4 (omia.variant:764) was reported in affected Shorthorns (Beever and Marron, 2012).
Brenig et al. (2015) reported a 20bp duplication in exon 2 of ALX4 in affected Galloways (omia.variant:763), which is predicted to cause a frameshift. Coordinates for the variant were reported as g.75154399_75154418dup in UMD3.1 and genomic coordinates were later updated to reflect improved annoation of the ALX4 gene in the reference genome (Brenig et al., 2024). 
Buitkamp et al. (2023) reported the 20-bp duplication in the ALX4 gene (called ALX4dup-LfL, initially listed in OMIA as omia.variant:1516) as being the likely cause of the case of tibial hemimelia in a white Galloway calf born in Germany. These authors noted that the likely causal variant reported by Brenig et al. (2015) (called ALX4dup-GAU) corresponds "exactly to the last 20 bp of exon 2, whereas the ALX4dup-LfL is shifted by 3 bp in the 5-prime direction". However, the correction by Brenig et al. (2024) identified that affected animals in both studies had the same variant. Both variants are now merged into one entry and omia.variant:1516 is redundant.

A DNA test for this disorder in Shorthorns was described in 2006 in a patent published in 2012 (Beever and Marron, 2012).