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. 2024 Nov 28;5:26330040241290252. doi: 10.1177/26330040241290252

Table 3.

Existing in vivo models for MED13L syndrome.

Animal Genetic model Outcome
Danio rerio (zebrafish) 38 med13b (knockdown) Neural crest dysregulation
Mus musculus (mouse) 81 Med13l N-terminal (1–668) Knockdown MED13L nuclear and cytoplasmic neuronal co-localization
Mus musculus, embryonic (mouse) 39 p.Pro866Leu
p.Ser2163Leu
p.Thr2162M
p.Gln1922*		 Dominant-negative
Hypomorphic
Reduced function
Loss-of-function
Mus musculus (mouse) 82 Med13 + Med13l Cre-Lox alphaMHC (double KO) Decreased ejection fraction, cardiomyopathy, increased mortality