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) mutant was occurred in the DW/J-Pas background, and foundin the CNRS breeding center of Orleans-La Source. This mutation isautosomal recessive, affecting primarily Purkinje cells in the cerebellar cortex. The mutant has been maintained in the Institut Pasteur, Paris,Cedex, France by Dr. Guenet J-L. The mutant mice imported to Experimental Animal Research Division, Life Science Tsukuba Research Center, RIKEN in 1997. The mice were sib-mated for 6 generations in the conventional facility. Then, the mice were rederived by in vitro fertilization and embryo transfer into the SPF facility, followed by sib-mating for 18 generations (July, 2003).
Colony maintenanceCoat color gene: A/A, ln/ln. The homozygous mutant mice exhibit neurological symptom characteristics to the cerebellar mutant, can not walk straight after weaning. The gene name Tambaleante comes from Spanish wordmeaning a drunken person with awkward behavior. Histologically Purkinje cells in the cerebellar cortex degenerate rapidly after 2 months of age.Both homozygous females and males can breed, but the females are poor breeders. The strain is maintained by sister-brother mating between heterozygous females and homozygous males.
References
Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.
Mashimo T, Hadjebi O, Amair-Pinedo F, Tsurumi T, Langa F, Serikawa T, Sotelo C, Guenet J L, Rosa J L
PLoS Genet., 5 (12) e1000784 (2009). 20041218

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

Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells.
Wassef M, Sotelo C, Cholley B, Brehier A, Thomasset M
Dev. Biol., 124, 379-389 (1987). 3678603

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Herc1HECT and RLD domain containing E3 ubiquitin protein ligase family member 19Herc1tambaleante
  • macrocephaly, dysmorphic facies, and psychomotor retardation(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe 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

    Donor DNA
    Research application
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR. * 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 Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved embryos (within 1 month)
    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