title: Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation.
abstract: Circletail (Crc) is a new mouse mutant that exhibits a severe form of neural tube defect, craniorachischisis, in which almost the entire neural tube fails to close. This phenotype is seen in very few other mutants, the best characterized of which is loop-tail (Ltap(Lp), referred to hereafter as Lp). We tested the possibility of allelism between Lp and Crc by intercrossing Lp/+ and Crc/+mice. A proportion of double heterozygotes (Lp/+,Crc/+) exhibit craniorachischisis, revealing failure of complementation. However, genetic analysis shows that Crc is not linked to the markers that flank the Lp locus and cannot, therefore, be an allele of Lp. A genome-wide scan has localized the Crc gene to a region of 8.8 cM on central chromosome 15. Partial penetrance of the craniorachischisis phenotype in Crc/+,Lp/+double heterozygotes suggests the existence of a third, unlinked genetic locus that influences the interaction between Crc and Lp.
authors.affiliation: Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK. J.Murdoch@ich.ucl.ac.uk
authors.forename: J N
authors.initials: JN
authors.lastname: Murdoch
authors.forename: R A
authors.initials: RA
authors.lastname: Rachel
authors.forename: S
authors.initials: S
authors.lastname: Shah
authors.forename: F
authors.initials: F
authors.lastname: Beermann
authors.forename: P
authors.initials: P
authors.lastname: Stanier
authors.forename: C A
authors.initials: CA
authors.lastname: Mason
authors.forename: A J
authors.initials: AJ
authors.lastname: Copp
mesh_terms: D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D002875:Chromosomes / Q000235:genetics; D003433:Crosses, Genetic; D005260:Female; D005838:Genotype; D008297:Male; D051379:Mice; D008807:Mice, Inbred BALB C; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008815:Mice, Inbred Strains; D008817:Mice, Mutant Strains; D008822:Mice, Transgenic; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics*; D009436:Neural Tube Defects / Q000196:embryology / Q000235:genetics*; D009672:Notochord / Q000002:abnormalities; D010641:Phenotype