RBRC00188, DW/Pas- tbl

RBRC No. RBRC00188
Type Spontaneous Mutation
Species Mus musculus
Strain name DW/Pas-tbl
Former Common name No Data
H-2 Haplotype No Data
Background strain No Data
Appearance
1 Appearance No Data
Genotype No Data
Strain description Tambaleante (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 maintenance Coat 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 word
meaning 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.
Health Report No Data
Gene Details
Promoter No Data
1 Symbol Herc1
Symbol name hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Chromosome 9
Common name No Data
Symbol description No Data
References Dev Biol. 1987 Dec;124(2):379-89.
J Neurosci. 1995 Mar;15(3 Pt 1):2040-56.

Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells.
Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells.
Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells.
Research applications No Data
Specific Term and Conditions The following terms and conditions will be requested by the DEPOSITOR.
The 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.
Additional information
1 No Data
Depositor Guenet, Jean-Louis (Institut Pasteur) Guenet, Jean-Louis
Strain Status /
Availability
(Expected delivery)


Frozen
Cryopreserved embryos : Within 1 month
Recovered litters from cryopreserved embryos : 2-4 months
BRC mice in Publications
Title Journal
(PMID)
Author
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)
Mashimo T, Hadjebi O, Amair-Pinedo F, Tsurumi T, Langa F, Serikawa T, Sotelo C, Gu net JL, Rosa JL.