Table 1 Genotype-Phenotype Correlations.
From: A novel cardiomyopathy phenotype linked to a CHD7 missense variant
Chd7+/+ | Chd7fs/+ | Chd7T720A/+ | Chd7T720A/T720A | Chd7fs/T720A | |
|---|---|---|---|---|---|
Total number | 139 | 15 | 176 | 128 | 6 (All animals died before P2) |
Sex ratio | 76 M, 63 F | 10 M, 5 F | 93 M, 81 F(2 ND) | 65 M, 63 F | 5 M, 1 F |
Circling | 0 | N = 14/14 (9 M, 5 F): 100%. 1 M was dead after birth. | 0 | 0 | Animals did not survive to be evaluated. |
Round head | 0 | N = 1/15: 7% | 0 | 0 | N = 1/1 (1 M): 100%, 5 ND |
Abnormal eye | 0 | N = 13/14 (8 M, 5 F): 93%. Unilateral microphthalmia | 0 | 0 | N = 5/5 (4 M, 1 F): 100% had unilateral microphthalmia. N = 2/5 (2 M): 40% had anophthalmia. 1 M was indeterminant. |
