Fig. 2

Schematic diagram of the ovine OBSL1 gene showing the location of the candidate causal mutation ENSOARG00000020239:g.220472248delC with Sanger sequencing chromatograms for one wildtype control, one obligate carrier and one affected animal. a Location of the ovine OBSL1 gene, OAR2:220453801–220475937 on the Oar_v3.1 ovine genome assembly. b Enlarged view of the OBSL1 gene with 25 exons. c Genomic region containing the c.1716delC frameshift variant with protein translation frames obtained from Ensembl genome browser 98 (Ensembl, accessed 26th December 2019, < http://asia.ensembl.org/Ovis_aries/Location/View?db=core;g=ENSOARG00000020239;r=2:220472236-220472254;t=ENSOART00000022037>. The position of the variant is identified by a red box and the protein reading frame is identified by a black box. d Sanger sequencing chromatograms for one wildtype, one obligate carrier and one affected animal (reverse strand)