Phenotypes

Jacinto et al. (2025): "A Holstein heifer ... was clinically diagnosed with scoliosis of the caudal vertebra (“crooked tail”), thoracic scoliosis, and skull dysplasia. The [whole genome sequencing based] trio-approach identified a heterozygous missense variant in exon 5 of SLC40A1, affecting the ferroportin-1 domain of SLC40A1 (Chr2:g.6785954 T > A; c.323 T > A; p.Ile108Asn) [omia.variant:1839]. The pathogenic variant most likely arose p...