Strain Data Sheet

RBRC00188

Strain Information

Image
BRC No.RBRC00188
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameDW/JPas-Herc1<tbl>/PasRbrc
Former Common nameDW/Pas-<tbl>
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain descriptionTambaleante(tbl)はOrleans-La SourceのCNRS繁殖センターでDW/J-Pas系統に起こった劣性の自然突然変異マウスである。パスツール研究所 (Institut Pasteur, Paris, Cedex 15, France) のゲネ博士により維持されている。1997年に理化学研究所ライフサイエンス筑波研究センター実験動物室に導入。以後、コンベンショナル施設で6代兄妹交配により維持。体外受精によりSPF施設へ導入後、2003年７月現在、兄妹交配F18代。
Colony maintenance毛色遺伝子型A/A, ln/lnで淡褐色の被毛を有する系統である。常染色体性劣性遺伝子による小脳性の歩行異常を示す。直進歩行が困難でその様子があたかも「泥酔した人」に似ているので、その意味のスペイン語tambaleanteがその変異遺伝子名にあてられた。離乳後に症状が現れ、加齢とともに症状は顕著となる。組織学的には生後２ヶ月以降、急速に小脳のプルキニエ神経細胞が変性脱落する。ホモの雄は繁殖可能。ホモの雌は繁殖可能だが系統維持には不適。ホモの雄とヘテロの雌を交配して系統維持する。
References
Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells.
M Wassef, C Sotelo, B Cholley, A Brehier, M Thomasset
Dev. Biol., 124, 379-389 (1987). 3678603

Target neuron controls the integrity of afferent axon phenotype: a study on the Purkinje cell-climbing fiber system in cerebellar mutant mice.
F Rossi, A Jankovski, C Sotelo
J. Neurosci., 15, 2040-2056 (1995). 7891151

Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.
Tomoji Mashimo, Ouadah Hadjebi, Fabiola Amair-Pinedo, Toshiko Tsurumi, Francina Langa, Tadao Serikawa, Constantino Sotelo, Jean-Louis Guénet, Jose Luis Rosa
PLoS Genet., 5 (12) e1000784 (2009). 20041218

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Herc1
MGI:2384589		HECT and RLD domain containing E3 ubiquitin protein ligase family member 19Herc1<tbl>
MGI:3613033		tambaleante
  • macrocephaly, dysmorphic facies, and psychomotor retardation(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • Purkinje cell degeneration (MP:0000876)

  • abnormal Purkinje cell morphology (MP:0000877)

  • abnormal cerebellar Purkinje cell layer (MP:0000875)

  • abnormal gait (MP:0001406)

  • decreased Purkinje cell number (MP:0000880)
    • more 4 phenotypes
  • decreased body height (MP:0001255)

  • decreased survivor rate (MP:0008770)

  • impaired coordination (MP:0001405)

  • limb grasping (MP:0001513)
    • Detailed phenotype data

    Ordering Information

    供与核酸
    Research application
    提供条件利用者は事前に寄託者の提供承諾書を得る。* The RIKEN BRC shall maintain, store, multiply and distribute the BIOLOGICAL RESOURCE in Japan only.
    * Before any access to the biological resource, the Recipient will sign (as well as his/her administrative authority) the enclosed form to be sent to the Depositor (Institute Pasteur).
    * Prior to applications for a patent, or intellectual property or other rights based on the results of research using the BIOLOGICAL RESOURCE, the recipient shall discuss such applications with the DEPOSITOR. Use of the BIOLOGICAL RESOURCE shall be a collaborative research with the DEPOSITOR. The DEPOSITOR requires to be co-owner for the inventions or other intellectual property generated by using the BIOLOGICAL RESOURCE.
    DepositorJean-Louis Guenet（Institut Pasteur）
    Strain Status凍結胚のアイコン凍結胚
    Strain Availability凍結胚より作出したマウスを2~4ヶ月以内に提供可能
    凍結胚を1ヶ月以内に提供可能
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    Mashimo T, Hadjebi O, Amair-Pinedo F, Tsurumi T, Langa F, Serikawa T, Sotelo C, Guénet JL, Rosa JL.
    Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.
    PLoS Genet 5(12) e1000784(2009) 20041218