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. 2017 Sep 13;7:11466. doi: 10.1038/s41598-017-11523-3

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Bulldog calves show perfect genotype-phenotype correlations with humans affected by hypochondrogenesis/achondrogenesis type II. (a–h) Phenotypic characteristics of a bulldog calf (here the COL2A1 p.G720S/+ calf BD3) which, like humans affected by hypochondrogenesis/achondrogenesis type II, shows abnormal endochondral ossification resulting in a general shortening of long bones. (a) dorsal view and (b) ventral view. Note the extremely short limbs and short head. Radiographs: (c) of the left hind limb and (d) the left front limb showing multiple short dysplastic bones, (e) of the head demonstrating a ventrally rotated and dysplastic splanchnocranium. (f) Cleft palate (palatoschisis). (g) Longitudinal section through columna showing multiple areas of marked spinal cord compression due to abnormal epiphyseal development. (h) The centre of the proximal epiphysis of the femur shows non organized hypertrophic chondrocytes and large vessels. Ossification is not present. (HE 75x). Clinical features for BD1 and BD2 are presented in Supplementary Figs 6 and 7. (i) Domain and region information for the α1 chain of type II collagen obtained from the UniProt database (http://www.uniprot.org/; accession number: P02459). (j) Multispecies alignment of the COL2A1 proteins from different vertebrate species. Note the perfect conservation of the glycine residues of the typical Gly-x-y structural motif, the mutation of which causes hypochondrogenesis/achondrogenesis type II in humans and bulldog calf syndrome in bovine (i.e. p.G600D for BD2, p.G720S for BD3, p.G960R for the cases presented in Daetwyler et al.⁴, and p.G996S for BD2). Protein sequences accession numbers in Ensembl are ENSBTAP00000017505, ENSP00000369889, ENSGALP00000035064, ENSACAP00000006225, ENSXETP00000043834 and ENSDARP00000091007.