The mouse rib-vertebrae mutation disrupts anterior-posterior somite patterning and genetically interacts with a Delta1 null allele
| Autor: | Nicole Schlautmann, Achim Gossler, Johannes Beckers |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Embryology
Axial skeleton Mutant Notch signaling pathway Biology medicine.disease_cause LFNG Embryonic and Fetal Development Mice medicine Animals Allele Genetics Mutation Intracellular Signaling Peptides and Proteins Gene Expression Regulation Developmental Membrane Proteins Rib-vertebrae Mouse Delta1 Anterior-posterior somite patterning Cell Differentiation Null allele Cell biology Somite medicine.anatomical_structure Somites Developmental Biology |
| Zdroj: | Mech. Dev. 95, 35-46 (2000) |
| Popis: | Rib-vertebrae ( rv ) is an autosomal recessive mutation in mouse that affects the morphogenesis of the vertebral column. Axial skeleton defects vary along the anterior-posterior body axis, and include split vertebrae and neural arches, and fusions of adjacent segments. Here, we show that defective somite patterning underlies the vertebral malformations and altered Notch signaling may contribute to the phenotype. Somites in affected regions are irregular in size and shape, epithelial morphology is disrupted, and anterior-posterior somite patterning is abnormal, reminiscent of somite defects obtained in loss-of-function alleles of Notch signaling pathway components. Expression of Dll1 , Dll3 , Lfng and Notch1 is altered in rv mutant embryos, and rv and Dll1 lacZ , a null allele of the Notch ligand Delta1, genetically interact. Mice double heterozygous for rv and Dll1 lacZ , show vertebral defects, and one copy of Dll1 lacZ on the homozygous rv background enhances the mutant phenotype and is lethal in the majority of cases. However, fine genetic mapping places rv into an interval on chromosome seven that does not contain a gene encoding a known component of the Notch signaling pathway. |
| Databáze: | OpenAIRE |
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