title: Deletion map of the coloboma (Cm) locus on mouse chromosome 2.
abstract: The extent of the semidominant coloboma (Cm) mutation on mouse Chromosome 2 was determined by deletion mapping using interspecific hybrid mice. The Cm deletion mutation results in ophthalmic dysmorphology and behavioral deficits, including profound hyperactivity, and has been shown to encompass the gene Snap. In addition to Snap, the gene encoding phospholipase C beta-1 (Plcb-1), which maps 0.60 +/- 0.60 cM proximal to Snap, and simple sequence repeat (SSR) loci D2Mit19, D2Mit46, D2Mit28, and D2Mit136 were shown to be deleted at the Cm locus. In contrast, analysis of other closely linked SSRs and genes either proximal (Bmp-2a) or distal (Nec-1) to Snap, as well as a complementation test with the closely linked mutation lethal milk (lm), indicates that these gene sequences are unaffected by the Cm mutation. These data demonstrate that the Cm deletion represents a contiguous gene defect encompassing 1.1 to 2.2 cM that may be probed for genes, both in the mouse and in the syntenic region of human Chr 20, that independently affect elements of neurological behavior and eye development.
authors.affiliation: Department of Neuropharmacology, Scripps Research Institute, La Jolla, California 92037.
authors.forename: E J
authors.initials: EJ
authors.lastname: Hess
authors.forename: K A
authors.initials: KA
authors.lastname: Collins
authors.forename: N G
authors.initials: NG
authors.lastname: Copeland
authors.forename: N A
authors.initials: NA
authors.lastname: Jenkins
authors.forename: M C
authors.initials: MC
authors.lastname: Wilson
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003103:Coloboma / Q000235:genetics*; D003433:Crosses, Genetic; D005819:Genetic Markers; D051379:Mice / Q000235:genetics*; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D009115:Muridae / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D013045:Species Specificity; D010738:Type C Phospholipases / Q000235:genetics
chemical_list: D005819:Genetic Markers; D010738:Type C Phospholipases