Publication Date:
2013-10-09
Description:
Using the N -ethyl- N -nitrosourea (ENU) mutagenesis screen, we have identified two skeletal morphology mutants, Skm1 and Skm2 . Positional cloning and candidate gene sequencing localized the causative point mutations within the genes coding for natriuretic peptide receptor C (NPR-C) and filamin b (FLNB), respectively. Mice that carry a mutation in Npr3 exhibit a skeletal overgrowth phenotype, resulting in an elongated body and kyphosis. Skm2 mice, carrying a mutation in Flnb , present with scoliosis and lordosis. These mutant mice will serve as useful models for the study of vertebral malformations.
Electronic ISSN:
2160-1836
Topics:
Biology
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