Strain Data Sheet

RBRC00765

Strain Information

Image
BRC No.RBRC00765
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameINAD
Former Common nameinfantile neuroaxonal dystrophy: INAD
H-2 Haplotype
ES Cell line
Background strainC57BL/6
Appearanceblack [(a/a B/B C/C)]
Strain developmentDiscovered in a C57BL/6 breeding colony. Developed by Dr. Yoshibumi Matsushima, Saitama Cancer Center in 2005.
Strain descriptionThe spontaneous mutation that was discovered in a C57BL/6 breeding colony. Homozygous mutant mice exhibit the incoordinated limbs and lean body in the lower half of the body, and die from 4 to 5 weeks after birth. In these mice, a neurodystrophic change appearing as spheroid bodies in central and peripheral nervous system is observed. This strain is useful as a mouse model for infantile neuroaxonal dystrophy (INAD).
Colony maintenanceSibling Mating (Heterozygote x Heterozygote) or Transplant-Cross-Intercross (maintenace by ovary transplantation, Homozygote x Heterozygote)Homozygous mutant mice die before sexual maturity.
References
A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1.
Matsushima Y, Kikuchi T, Kikuchi H, Ichihara N, Ishikawa A, Ishijima Y, Tachibana M
Mamm. Genome, 16, 73-78 (2005). 15859351

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Kif1a
MGI:108391		kinesin family member 1A1Kif1a
  • hereditary spastic paraplegia 30(MedGEN)

  • intellectual disability, autosomal dominant 9(MedGEN)

  • neuropathy, hereditary sensory and autonomic, type 2A(MedGEN)
    • more 1 Diseases
  • neuropathy, hereditary sensory, type 2C(MedGEN)
    • inad
    MGI:3577064    		infantile neuroaxonal dystrophy1inad<inad>
    MGI:3577101    		infantile neuroaxonal dystrophy

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal hindlimb morphology(MP:0000556)

  • abnormal medulla oblongata morphology(MP:0000846)

  • abnormal nervous system morphology(MP:0003632)

  • ataxia(MP:0001393)

  • axonal dystrophy(MP:0003225)
    • more 8 phenotypes
  • decreased total body fat amount(MP:0010025)

  • dilated fourth ventricle(MP:0000829)

  • dilated third ventricle(MP:0000827)

  • hindlimb paralysis(MP:0000755)

  • limb grasping(MP:0001513)

  • paraparesis(MP:0009434)

  • premature death(MP:0002083)

  • small hippocampus(MP:0008283)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsNo specific terms and conditions. (The DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of the BIOLOGICAL RESOURCE.)
    DepositorYoshibumi Matsushima (Saitama Cancer Center)
    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. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-
    Mouse of the Month Mar 2005

    BRC mice in Publications

    No Data