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. Author manuscript; available in PMC: 2019 Jun 3.
Published in final edited form as: Cell Rep. 2018 May 29;23(9):2643–2652. doi: 10.1016/j.celrep.2018.04.118

Figure 1. Autosomal Recessive Micro-phthalmia in ISCWT Dogs.

Figure 1

(A) External eye phenotype, showing microphthalmia.

(B) Pedigree diagram showing lineage relationships among diseased dogs, clinical eye findings, RBP4 genotypes, and the maternal penetrance effect. Phenotypes and confirmed DNA genotypes (n = 67) are indicated by inner and outer symbols, respectively, as described in the inset legend. Dogs included in the GWAS are highlighted in yellow (12 cases and 17 controls). All 17 microphthalmic dogs (■ ●) and their dams are RBP4 deletion homozygotes (del/del). One deletion homozygote with a homozygous dam had eyes of normal size, with chorioretinal hypoplasia. Ten dogs without microphthalmia (□ ○) were also genotyped as homozygous (del/del), but they had heterozygous (del/+, n = 9) or untyped (del/−, n = 1) dams. See also Figure S2 and Table S1.