title: Characterization of two ENU-induced mutations affecting mouse skeletal morphology.
abstract: 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.
authors: Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada.
authors: Shauna M
authors: SM
authors: Dauphinee
authors: Megan M
authors: MM
authors: Eva
authors: Kyoko E
authors: KE
authors: Yuki
authors: Melissa
authors: M
authors: Herman
authors: Silvia M
authors: SM
authors: Vidal
authors: Danielle
authors: D
authors: Malo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001842:Bone and Bones / Q000002:abnormalities*; D005038:Ethylnitrosourea; D064448:Filamins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D009153:Mutagens; D020125:Mutation, Missense; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics* / Q000378:metabolism; D013121:Spinal Curvatures / Q000235:genetics*
chemical_list: D064448:Filamins; D009153:Mutagens; D017461:Receptors, Atrial Natriuretic Factor; C073616:atrial natriuretic factor receptor C; D005038:Ethylnitrosourea
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