Faculty Research 1990 - 1999
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries.
Document Type
Article
Publication Date
1998
Keywords
Alternative Splicing, Amino Acid Sequence, Animal, Base Sequence, Chromosome Mapping, DNA, Complementary, Membrane Proteins/genetics/physiology, Mice, Molecular Sequence Data, Mutation, Proteins/metabolism, Somites/physiology
First Page
274
Last Page
278
JAX Source
Nat Genet 1998 Jul;19(3):274-8
Abstract
Pudgy (pu) homozygous mice exhibit clear patterning defects at the earliest stages of somitogenesis, resulting in adult mice with severe vertebral and rib deformities. By positional cloning and complementation, we have determined that the pu phenotype is caused by a mutation in the delta-like 3 gene (Dll3), which is homologous to the Notch-ligand Delta in Drosophila. Histological and molecular marker analyses show that the pu mutation disrupts the proper formation of morphological borders in early somite formation and of rostral-caudal compartment boundaries within somites. Viability analysis also indicates an important role in early development. The results point to a key role for a Notch-signalling pathway in the initiation of patterning of vertebrate paraxial mesoderm.
Recommended Citation
Kusumi K,
Sun ES,
Kerrebrock AW,
Bronson RT,
Chi DC,
Bulotsky MS,
Spencer JB,
Birren BW,
Frankel WN,
Lander ES.
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat Genet 1998 Jul;19(3):274-8