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A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L, Jagannathan V, Piffer C, Diez-Prieto I, Bolcato M, Gentile A, Drögemüller C. Murgiano L, et al. BMC Vet Res. 2016 Dec 5;12(1):276. doi: 10.1186/s12917-016-0904-4. BMC Vet Res. 2016. PMID: 27919260 Free PMC article.

An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.

Drögemüller C, Reichart U, Seuberlich T, Oevermann A, Baumgartner M, Kühni Boghenbor K, Stoffel MH, Syring C, Meylan M, Müller S, Müller M, Gredler B, Sölkner J, Leeb T. Drögemüller C, et al. PLoS One. 2011 Apr 15;6(4):e18931. doi: 10.1371/journal.pone.0018931. PLoS One. 2011. PMID: 21526202 Free PMC article.

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