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

    Phenotype annotation from literatures by Mammalian phenotype 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 embryosFrozen embryos
    an 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