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 developmentC57BL/6 Apoe-/-の系統維持中に発見。その後、Apoe-/-を取り除いた。
Strain description乳児型軸索ジストロフィーの唯一のモデルマウス。幼少時に歩行異常を示す。歩行異常の遺伝は常染色体劣性遺伝に従い、原因は中枢神経系の広範囲に及ぶ軸索ジストロフィーであり、既存の軸索ジストロフィーマウスとの相補テストの結果、新規のものである。B6バックで、mutant個体は雌雄とも4-6週で死亡する。
Colony maintenance繁殖効率：Aホモ個体は雌雄とも繁殖不可。へテロ雌雄個体の交配で維持。
References
A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1.
Yoshibumi Matsushima, Tateki Kikuchi, Hisae Kikuchi, Nobutsune Ichihara, Akira Ishikawa, Yasushi Ishijima, Masayoshi Tachibana
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

    Phenotype annotation from literatures by Mammalian phenotype 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

    供与核酸
    Research applicationMouse Models for Human Disease
    提供条件条件を付加しない。
    Depositor松島　芳文（埼玉県立がんセンター研究所）
    Strain Status凍結胚のアイコン凍結胚
    Strain Availability凍結胚より作出したマウスを2~4ヶ月以内に提供可能
    凍結胚を1ヶ月以内に提供可能
    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