Article
Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Jul 2026
Leinheiser Anna K, Nguyen Timothy T, Henry Kayla M, Rosales Mariela, Van Otterloo Eric, Grueter Chad E
Abstract excerpt
BACKGROUND: Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC. In mammals, there are paralogs for CKM components, including MED13L, MED12L, and CDK19. Neurological disorders have been associated with mutations in CKM genes...
Topics
- Animals
- Mediator Complex
- Craniofacial Abnormalities
- Mice
- Disease Models, Animal
- Heterozygote
- Haploinsufficiency
- Syndrome
- Female
- Phenotype