PMID- 12461648 OWN - NLM STAT- MEDLINE DCOM- 20030520 LR - 20071114 IS - 0938-8990 (Print) IS - 0938-8990 (Linking) VI - 13 IP - 11 DP - 2002 Nov TI - Genetic mapping of an insertional hydrocephalus-inducing mutation allelic to hy3. PG - 625-32 AB - The transgenic mouse line OVE459 carries a transgene-induced insertional mutation resulting in autosomal recessive congenital hydrocephalus. Homozygous transgenic animals experience ventricular dilation with perinatal onset and are noticeably smaller than hemizygous or non-transgenic littermates within a few days after birth. Fluorescence in situ hybridization (FISH) revealed that the transgene inserted in a single locus on mouse Chromosome (chr) 8, region D2-E1. Genetic crosses between hemizygous OVE459 mice and mice heterozygous for the spontaneous mutation hydrocephalus-3 (hy3) produced hydrocephalic offspring with a frequency of 22%, demonstrating that these two mutations are allelic. A genomic library was made by using DNA from homozygous OVE459 mice, and genomic DNA flanking the transgene insertion site was isolated and sequenced. A PCR polymorphism between C57BL/6 DNA and Mus spretus was used to map the location of the transgene insert to 1.06 cM +/- 0.75 proximal to D8Mit152 by using the Jackson Laboratory Backcross DNA Panel Mapping Resource. Furthermore, sequence analysis from a mouse bacterial artificial chromosome (BAC) clone, positive for unique markers on both sides of the transgene insertion site, demonstrated that the genomic DNAs flanking each side of the transgene insertion are physically separated by approximately 51 kb on the wild-type mouse chromosome. FAU - Robinson, Michael L AU - Robinson ML AD - Division of Molecular and Human Genetics, Dept. of Pediatrics, Children's Research Institute, The Ohio State University, 700 Children's Drive, Rm. W492, Columbus, OH 43205, USA. robinsom@pediatrics.ohio-state.edu FAU - Allen, Carl E AU - Allen CE FAU - Davy, Brian E AU - Davy BE FAU - Durfee, William J AU - Durfee WJ FAU - Elder, Frederick F AU - Elder FF FAU - Elliott, Christopher S AU - Elliott CS FAU - Harrison, Wilbur R AU - Harrison WR LA - eng SI - GENBANK/AC069308 GR - HD 34615/HD/NICHD NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Mamm Genome JT - Mammalian genome : official journal of the International Mammalian Genome Society JID - 9100916 SB - IM MH - Animals MH - Female MH - Humans MH - Hydrocephalus/*genetics MH - Male MH - Mice MH - Mice, Transgenic MH - Molecular Sequence Data MH - *Physical Chromosome Mapping EDAT- 2002/12/04 04:00 MHDA- 2003/05/21 05:00 CRDT- 2002/12/04 04:00 PHST- 2002/05/28 00:00 [received] PHST- 2002/08/21 00:00 [accepted] PHST- 2002/12/04 04:00 [pubmed] PHST- 2003/05/21 05:00 [medline] PHST- 2002/12/04 04:00 [entrez] AID - 10.1007/s00335-002-2201-8 [doi] PST - ppublish SO - Mamm Genome. 2002 Nov;13(11):625-32. doi: 10.1007/s00335-002-2201-8.