Strain Data Sheet

RBRC10079

Strain Information

Image
BRC No.RBRC10079
TypeSpontaneous Mutation Congenic
SpeciesMus musculus
Strain nameB6.Cg-Uchl1<gad>/Wada
Former Common namegad mice
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Keiji Wada, National Institute of Neuroscience, NCNP.
Strain descriptionSpontaneous neurological mutant found in the F2 offspring of CBA/Nga and RFM/Nga mice. Mutation was found in the gene, Uchl1 (ubiquitin carboxy-terminal hydrolase L1). C57BL/6J congenic strain by backcrossing over 35 generations. Homozygous mutants exhibit axonal dystrophy and degeneration in the gracile nucleus of the medulla around 2 months old and die around 6 months to 1 year old. Homozygous mutants are difficult to breed.
Colony maintenance
References
Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice.
Saigoh K, Wang Y L, Suh J G, Yamanishi T, Sakai Y, Kiyosawa H, Harada T, Ichihara N, Wakana S, Kikuchi T, Wada K
Nature Genetics, 23, 47-051 (1999). 10471497

Aberrant molecular properties shared by familial Parkinson's disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1.
Kabuta T, Setsuie R, Mitsui T, Kinugawa A, Sakurai M, Aoki S, Uchida K, Wada K
Human Mol. Genetics, 17(10), 1482-1496 (2008). 18250096

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Uchl1
MGI:103149		ubiquitin carboxy-terminal hydrolase L15Uchl1<gad>
MGI:1856882		gracile axonal dystrophy
  • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome(MedGEN)

  • Parkinson disease 5, autosomal dominant, susceptibility to(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal dorsal root ganglion morphology(MP:0000961)

  • abnormal gait(MP:0001406)

  • abnormal hindlimb morphology(MP:0000556)

  • abnormal medulla oblongata morphology(MP:0000846)

  • abnormal spinal cord dorsal column morphology(MP:0009677)
    • more 10 phenotypes
  • abnormal stationary movement(MP:0001388)

  • ataxia(MP:0001393)

  • axon degeneration(MP:0005405)

  • axonal dystrophy(MP:0003225)

  • decreased body weight(MP:0001262)

  • motor neuron degeneration(MP:0000938)

  • paralysis(MP:0000753)

  • premature death(MP:0002083)

  • tremors(MP:0000745)

  • weight loss(MP:0001263)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Neurobiology Research
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Nature Genetics, 23, 47-051 (1999).
    DepositorKeiji Wada (National Center of Neurology and Psychiatry)
    Strain Statusan icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data