Phenotypes

The causative mutation for this disorder was discovered via the candidate gene approach. Tassi et al. (1984) reported a 10-15-fold decrease in the concentration of TG mRNA in affected cattle; Ricketts et al. (1985) reported the use of S1 nuclease assays and electron microscopy to narrow down the location of the mutation to the junction of exon 9 and intron 9; and Ricketts et al. (1987) reported the use of cloning and sequencing of genomic DNA ...

Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].

Illustrating the enormous power of genomic tools, Wiedemar et al. (2015) were able to identify a likely causal mutation for a previously unrecorded disease phenotype in just a single calf.

Zhang et al. (2019): "Normally IH begins with a small and painless protrusion of the interdigital skin which sometimes can already be diagnosed at calf age. In the final stage clinical signs of IH are firm tumor like masses found in the interdigital space with skin lesions that can result in deep necrosis and phlegmonous inflammations."