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. Author manuscript; available in PMC: 2018 Jan 1.
Published in final edited form as: Nat Genet. 2017 May 22;49(7):1152–1159. doi: 10.1038/ng.3870

Table 1.

Genotype–phenotype analysis of Ohia mutants

CHD Phenotype
(n = 142)		 Sap130m/m
Pcdha9m/m (n = 88)g 		Sap130m/m
Pcdha9m/+ (n = 27)h 		Sap130m/m
Pcdha9+/+ (n = 59)i 		Sap130m/+
Pcdha9m/m (n = 12)j 		Sap130+/+
Pcdha9m/m
(n = 27)k 		Sap130m/+ or +/+
Pcdha9m/+ or +/+ (n = 380)l
HLHSa (n = 28) 23 0.26 3 0.11 2 0.03 0 0 0 0 0 0
LV/MV hypoplasiab (n = 13) 6 0.07 1 0.04 6 0.10 0 0 0 0 0 0
Hypo Aoc/ aortic stenosisd (n = 37) 14 0.16 4 0.15 13 0.22 3 0.25 3 0.11 0 0
Other CHDe (n = 64) 30 0.34 14 0.52 18 0.31 2 0.17 0 0 0 0
Totalf 73 0.83 22 0.81 39 0.66 5 0.42 3 0.11 0 0
a

Five were DORV-subtype HLHS.

b

CHD associated with hypoplastic LV and hypoplastic MV, but with normal-sized aorta.

c

CHD associated with normal-sized LV but hypoplastic aorta (hypo Ao).

d

One mutant with Sap130+/+; Pcdha9m/m associated with aortic stenosis; two mutants associated with immature thickened aortic valves.

e

CHD with normal-sized aorta and normal-sized LV, but with an outflow tract malalignment defect, aortic arch anomalies, and hypoplastic RV with tricuspid hypoplasia.

f

Ohia offspring with CHD in different genotypes.

g–l

Left columns, number of mutants; right columns, percentage of mutants with CHD in the indicated genotype.

g–k

Comparisons by Fisher’s exact test. To control for multiple testing, Bonferroni correction was applied for six tests (five mouse groups plus an overall group), thus resulting in a P-value threshold of 0.0125 for significance. Genotype g versus i, P = 0.0003; genotype g versus h–j, P = 6.3 × 10−5; genotype g versus i + k, P = 6.0 × 10−7; genotype g versus h–k, P = 6.0 × 10−7, genotype g versus k, P = 0.00093. No significance for comparisons of g versus h, j, or h + j; h versus k; or i versus k, h + i, or j + k.