Article
Identification of disease-relevant modulators of the SHH pathway in the developing brain.
Development (Cambridge, England) - 1 Sept 2021
Mecklenburg Nora, Kowalczyk Izabela, Witte Franziska, Görne Jessica, Laier Alena, Mamo Tamrat M, Gonschior Hannes, Lehmann Martin, Richter Matthias, Sporbert Anje, Purfürst Bettina, Hübner Norbert, Hammes Annette
Abstract excerpt
Pathogenic gene variants in humans that affect the sonic hedgehog (SHH) pathway lead to severe brain malformations with variable penetrance due to unknown modifier genes. To identify such modifiers, we established novel congenic mouse models. LRP2-deficient C57BL/6N mice suffer from heart outflow tract defects and holoprosencephaly caused by impaired SHH activity. These defects are fully rescued on a FVB/N...
Topics
- Animals
- Brain
- Cilia
- Disease Models, Animal
- Genes, Modifier
- Heart Defects, Congenital
- Hedgehog Proteins
- Holoprosencephaly
- Low Density Lipoprotein Receptor-Related Protein-2
- Mice
- Mutation
- Neuroepithelial Cells