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Tb4 Knockdown Embryo Phenotype: Penetrance and Severity Classification

This study analyzes the penetrance and severity of the Tb4 knockdown embryo phenotype. Tb4shNk and Tb4shMlc embryos were classified as mild, moderate, or severe mutants based on criteria such as epicardial nodules, myocardial non-compaction, and heart displacement. Mutants were categorized based on the number of criteria satisfied as mild (1-2), moderate (3-4), or severe (5-6).

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Tb4 Knockdown Embryo Phenotype: Penetrance and Severity Classification

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  1. Table 1. Penetrance and Severity of Tb4 knockdown embryo phenotype penetrance (% total embryos) classification of severity (% total mutants) no. of litters no. of embryos Tb4shNk 21 221 mild moderate severe 36% 30 14% 43 19% 51% 5% 11 13% Tb4shMlc 15 140 mild moderate severe 9% 22% 12 37 69% 26% 5 4% 9% Tb4shNk and Tb4shMlc embryos were classified as mild, moderate or severe mutants based upon presentation of the following diagnostic criteria: i) epicardial nodules, ii) myocardial non-compaction, iii) morphologically abnormal myocardium (pale and necrotic appearance), iv) displacement of the heart/extended OFT, v) vessel defects (transparency and/or failed branching), vi) oedema and/or small embryonic size. Mutants were classified according to the number of criteria satisfied: mild (1-2), moderate (3-4) or severe (5-6).

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