Molecular analysis of the CNTN4 knockout mice

• Project/Area Number: 21590359
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Kyushu University
• Principal Investigator: IWAKI Akiko 九州大学, 生体防御医学研究所, 講師 (30253454)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2009: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 遺伝子改変マウス / 自閉症 / 細胞接着因子 / ゲノム / ゲノム医科学

Research Abstract

Contactin 4(Cntn4) is a member of the immunoglobulin super family of axon associated adhesion molecule. Recently, copy number variations of CNTN4 have been detected in several studies on autism spectrum disorders. To explore the dosage effect of Cntn4, we generated mice with targeted disruption of Cntn4. The knockout(KO) mice were viable and fertile and developed normally. Microarray analyses of the prefrontal cortex and olfactory bulb of KO mice revealed several hundred genes with altered expression levels in comparison with the wild type mice.

Research Products

• [Journal Article] Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion (2012)
  • Author(s): Torisu, Iwaki, et al
  • Journal Title: Brain Dev Volume: (In press) Issue: 10 Pages: 852-856
  • DOI: 10.1016/j.braindev.2012.02.006
  • Peer Reviewed
• [Journal Article] An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene (2011)
  • Author(s): Suzuki SO, Iwaki T, Arakawa K, Furuya H, Fujii N, Iwaki A
  • Journal Title: Acta Neuropathol Volume: 122 Pages: 775-781
  • Peer Reviewed
• [Journal Article] An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions (2011)
  • Author(s): Matsuoka T, Fujii N, Kondo A, Iwaki A, Hokonohara T, Honda H, Sasaki K, Suzuki SO, Iwaki T
  • Journal Title: Neuropathology Volume: 31 Pages: 71-6
  • Peer Reviewed
• [Journal Article] Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family (2011)
  • Author(s): Miura S, Shibata H, Kida H, Noda K, Toyama T, Iwasaki N, Iwaki A, Ayabe M, Aizawa H, Taniwaki T, Fukumaki Y
  • Journal Title: Neurogenetics Volume: 12 Pages: 25-31
  • Peer Reviewed
• [Journal Article] FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion (2010)
  • Author(s): Suzuki N, Aoki M, Warita H, Kato M, Mizuno H, Shimakura N, Akiyama T, Furuya H, Hokonohara T, Iwaki A, Togashi S, Konno H, Itoyama Y
  • Journal Title: J Hum Genet Volume: 55 Pages: 252-4
  • NAID: 10030734667
  • Peer Reviewed
• [Journal Article] Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation (2010)
  • Author(s): Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira JI
  • Journal Title: Acta Neuropathol Volume: 119 Pages: 355-364
  • Peer Reviewed
• [Journal Article] Comprehensive behavioural study of GluR4 knockout mice : implication in cognitive function (2010)
  • Author(s): Sagata N, Iwaki A, Aramaki T, Takao K, Kura S, Tsuzuki T, Kawakami R, Ito I, Kitamura T, Sugiyama H, Miyakawa T, Fukumaki Y
  • Journal Title: Genes Brain Behav Volume: 9 Pages: 899-909
  • Peer Reviewed
• [Journal Article] Comprehensive behavioral study of GluR4 knockout mice, implication in cognitive function. (2010)
  • Author(s): Sagata, N., et al.
  • Journal Title: Genes Brain Behav. Volume: 9 Pages: 899-909
  • Peer Reviewed
• [Journal Article] FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. (2010)
  • Author(s): Suzuki N., et al.
  • Journal Title: J Hum Genet. Volume: 55 Pages: 252-254
  • Peer Reviewed
• [Journal Article] An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions. (2010)
  • Author(s): Matsuoka, T., et al.
  • Journal Title: Neuropathology Volume: 31 Pages: 71-76
  • Peer Reviewed
• [Journal Article] Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation (2010)
  • Author(s): Tateishi, T., et al.
  • Journal Title: Acta Neuropathol. 119 Pages: 355-364
  • Peer Reviewed
• [Journal Article] A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease (2009)
  • Author(s): Kibe, T., et al.
  • Journal Title: Brain Dev. 31 Pages: 248-251
  • Peer Reviewed
• [Journal Article] Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion
  • Author(s): Torisu H, Iwaki A, Takeshita K, Hiwatashi A, Sanefuji M, Fukumaki Y, Hara T
  • Journal Title: Brain Dev Volume: in press
  • Peer Reviewed
• [Presentation] Molecular mechanisms of behavioral abnormalities of knockout mice of Grm3. (2011)
  • Author(s): Fujioka R, Nii T, Iwaki A, Kitaichi, K, Ito I, Shibata A, Nomura M, Hattori S, Takao K, Miyakawa T and Fukumaki Y.
  • Organizer: The 34th Annual Meeting of the Molecular Biology Society of Japan
  • Year and Date: 2011-12-14
• [Presentation] Molecular mechanisms of behavioral abnormalities of knockout mice of Grm3 (2011)
  • Author(s): Fujioka, et al
  • Organizer: The 34^<th> Annual Meeting of the Molecular Biology Society of Japan
  • Place of Presentation: Yokohama
  • Year and Date: 2011-12-14
• [Presentation] Generation and behavioral analysis of GluR4 knockout mice (2011)
  • Author(s): Iwaki A, Sagata N, Aramaki T, Takao K, Miyakawa T, Kawakami R, Ito I, Kitamura T, Sugiyama H, Kura S, Tsuzuki T, Fukumaki Y
  • Organizer: The 56th Annual Meeting of Japan Society of Human Genetics
  • Year and Date: 2011-11-09
• [Presentation] Comprehensive behavioral analysis of mGluR3 knockout mice (2010)
  • Author(s): Nii T, Fujioka R, Iwaki A, Hattori S, Takao K, Shibata A, Nomura M, Miyakawa T and Fukumaki Y.
  • Organizer: The 33 rd Annual Meeting of the Molecular Biology Society of Japan
  • Year and Date: 2010-12-08
• [Presentation] Generation and analysis of schizophrenia susceptibility candidate gene Grm3 KO mice. (2009)
  • Author(s): Nii T, Iwaki A, Sasaki T, Shibata A, Fukuyoshi Y, Sagata N, Nomura M, Fukumaki Y
  • Organizer: The 32nd Annual Meeting of the Molecular Biology Society of Japan
  • Year and Date: 2009-12-12
• [Presentation] Adult-onset spastic paraplegia type 2 with a novel mutation in exon 7 of PLP1An autopsy case (2009)
  • Author(s): Iwaki A, Suzuki SO, Arakawa K, Furuya H, Fujii N, Fukumaki Y, and Iwaki T.
  • Organizer: 59th Annual Meeting of the American Society of Human Genetics
  • Year and Date: 2009-10-21