title: Insertional mutation in the intron 1 of Unc5h3 gene induces ataxic, lean and hyperactive phenotype in mice.
abstract: Mice carrying a mutation in the first intron of Unc5h3 were accidentally produced by transgenic insertion and characterized for their homozygous mutant phenotypes. Morphological and histological analysis revealed cerebellar and midbrain abnormalities, which are similar to the previously reported phenotypes of the Unc5h3 mutant. Behavioral analysis showed higher ambulatory activity and circling, and defects in habituation in a novel environment. Their body weights were 10-30% less than wildtype mice from 2-3 weeks of age to 22 months possibly due to reduced accumulation of adipose tissues. The transgenic insertion site was identified and mapped to the intron 1 of Unc5h3 gene with approximately 50 kb deletion of the intron sequence. This intronic mutation interfered with the mRNA expression of the Unc5h3 gene not in testes, but in many tissues including the brain, implying that this intronic region may play a role in regulating tissue-specific transcription of Unc5h3.
authors.affiliation: Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine and Samsung Biomedical Research Institute, Suwon 440-746, Republic of Korea.
authors.forename: Yoon Sik
authors.initials: YS
authors.lastname: Choi
authors.forename: Seung-Beom
authors.initials: SB
authors.lastname: Hong
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Jeon
authors.forename: Eun Ju
authors.initials: EJ
authors.lastname: Kim
authors.forename: Wan-Jae
authors.initials: WJ
authors.lastname: Oh
authors.forename: So-Young
authors.initials: SY
authors.lastname: Joe
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Han
authors.forename: Min-Jae
authors.initials: MJ
authors.lastname: Lee
authors.forename: Han-Woong
authors.initials: HW
authors.lastname: Lee
mesh_terms: D000818:Animals; D001259:Ataxia / Q000235:genetics*; D006948:Hyperkinesis / Q000235:genetics*; D007438:Introns / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D008822:Mice, Transgenic; D016254:Mutagenesis, Insertional / Q000235:genetics*; D000075386:Netrin Receptors; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D013851:Thinness / Q000235:genetics*
chemical_list: D000075386:Netrin Receptors; D011956:Receptors, Cell Surface; C105653:Unc5c protein, mouse