Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome
SUMMARY Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1del64-323) that caused a 260-amino-acid deletion spanning nine amino acids in...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2011-01-01
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Series: | Disease Models & Mechanisms |
Online Access: | http://dmm.biologists.org/content/4/1/43 |