In other species: domestic guinea pig

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 240400 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2004

Species-specific name: Congenital ascorbic acid deficiency, osteogenic disorder

Species-specific symbol: od

History: Jensen et al. (1983) first described the disease in pigs. Hasan et al. (1999) observed linkage between the od locus and microsatellites SW857 and S0089, located in the subcentromeric region of SSC14, and mapped the candidate gene GULO to the same region by fluorescence in situ hybridization (FISH). Hasan et al. (2004) identified a large deletion in the GULO gene as disease causing mutation and developed a DNA test.

Molecular basis: "Here we demonstrate that the absence of GULO activity and the associated vitamin C deficiency in od/od pigs is due to the occurrence of a 4.2-kbp deletion in the GULO gene. This deletion includes 77 bp of exon VIII, 398 bp of intron 7 and 3.7 kbp of intron 8, which leads to a frame shift. The mutant protein is truncated to 356 amino acids, but only the first 236 amino acids are identical to the wild-type GULO protein." (Hasan et al., 2004)

Clinical features: "Normally, pigs produce sufficient levels of L-AA [L-ascorbic acid] to meet their requirements. However, a number of years ago, a mutant family of Danish pigs that lacks the ability to produce L-AA was discovered, and clinical cases of scurvy were described in swine for the first time (Jensen et al., 1983). Clinical signs of vitamin C deficiency in pigs include unwillingness to move, swelling around joints, signs of pain upon touching, multiple fractures, and hemorrhagic tendencies." (Hasan et al., 2004)

Breed: Danish Landrace (Pig) (VBO_0001124).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: