Article
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification.
Human molecular genetics - 15 Oct 2001
Murdoch J N, Doudney K, Paternotte C, Copp A J, Stanier P
Abstract excerpt
Neural tube defects (NTD) are clinically important congenital malformations whose molecular mechanisms are poorly understood. The loop-tail (Lp) mutant mouse provides a model for the most severe NTD, craniorachischisis, in which the brain and spinal cord remain open. During a positional cloning approach, we have identified a mutation in a novel gene, Lpp1, in the Lp mouse, providing a strong candidate for the...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA, Complementary
- Embryo, Mammalian
- Exons
- Female
- Gene Expression Regulation, Developmental
- Genes
- In Situ Hybridization
- Introns
