Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

• Main Authors: Cheng Cui (Author), Bishwanath Chatterjee (Author), Deanne Francis (Author), Qing Yu (Author), Jovenal T. SanAgustin (Author), Richard Francis (Author), Terry Tansey (Author), Charisse Henry (Author), Baolin Wang (Author), Bethan Lemley (Author), Gregory J. Pazour (Author), Cecilia W. Lo (Author)
• Format: Book
• Published: The Company of Biologists, 2011-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...