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Disruption of scribble (Scrib1) causes severe neural tube defects in the circletail mouse

Murdoch, Jennifer N; Henderson, Deborah J; Doudney, Kit; Gaston-Massuet, Carles; Phillips, Helen M; Paternotte, Caroline; Arkell, Ruth; Stanier, Philip L; Copp, Andrew J

Description

Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in humans, yet the molecular mechanisms involved remain poorly understood. Here, we report the identification of the gene mutated in circletail (Crc), using a positional cloning approach....[Show more]

CollectionsANU Research Publications
Date published: 2003
Type: Journal article
URI: http://hdl.handle.net/1885/52836
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddg014

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