Strain Data Sheet

RBRC00387

Strain Information

Image
BRC No.RBRC00387
TypeSpontaneous Mutation
SpeciesMus musculus
Strain namePIC/Nem-Pdn/+
Former Common namePDN/Nem-Pdn/+
H-2 Haplotype
ES Cell line
Background strain
Appearancealbino [c/c]
Strain developmentICR/Jlcに発見され突然変異（1977年）（織田銑一先生，名古屋大学環境医学研究所）．現在，名古屋大学大学院生命農学研究科（織田銑一先生）において維持されている．
Strain descriptionPdn: Polydactyly Nagoya　遺伝性多指症ヘテロ接合体において後肢第1指の多指症を表し，ホモ接合体において前後肢ともに軸前側に1から3本の過剰指を現し，約20％の外脳症が合併する．外脳症以外の個体も脳の発生異常が見られ，生後2日以内に死亡する．第13染色体上の優性突然変異．bg遺伝子座と近位でリンケージが見られる．Xt: extra toeの複対立遺伝子
Colony maintenanceSibling Mating (Heterozygote x Wild-type, Heterozygote)
References
Polydactyly Nagoya, Pdn: A new mutant gene in the mouse.
Hayasaka I, Nakatsuka T, Fujii T, Naruse I, Oda S
Exp. Anim., 29, 391-395 (1980). 7202526

Developmental brain abnormalities accompanied with the retarded production of S-100 beta protein in genetic polydactyly mice.
Naruse I, Kato K, Asano T, Suzuki F, Kameyama Y
Dev. Brain. Res., 51, 253-258 (1990). 2323034

Integration of a transposon into the Gli3 gene in the Pdn mouse.
Ueta E, Nanba E, Naruse I
Congenital Anomalies, 42, 318-322 (2002). 12634451

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Gli3
MGI:95729		GLI-Kruppel family member GLI313Gli3<Pdn>
MGI:1856282		polydactyly Nagoya
  • Greig cephalopolysyndactyly syndrome(DisGeNET, MedGEN)

  • Pallister-Hall syndrome(DisGeNET, MedGEN)

  • polydactyly, postaxial, type A1(MedGEN)
    • more 1 Diseases
  • polysyndactyly 4(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal cerebral cortex morphology (MP:0000788)

  • abnormal cerebral hemisphere morphology (MP:0008540)

  • abnormal digit morphology (MP:0002110)

  • abnormal hippocampal fornix morphology (MP:0003006)

  • abnormal hippocampus development (MP:0000808)
    • more 28 phenotypes
  • abnormal hippocampus morphology (MP:0000807)

  • abnormal hippocampus pyramidal cell layer (MP:0008284)

  • abnormal hypothalamus morphology (MP:0000837)

  • abnormal neuronal migration (MP:0006009)

  • abnormal olfactory nerve morphology (MP:0005236)

  • abnormal radial glial cell morphology (MP:0003648)

  • abnormal sternum manubrium morphology (MP:0008785)

  • abnormal sternum morphology (MP:0000157)

  • abnormal stratification in cerebral cortex (MP:0000790)

  • abnormal thalamus morphology (MP:0000832)

  • absent anterior commissure (MP:0008227)

  • absent corpus callosum (MP:0002196)

  • absent hippocampal commissure (MP:0008223)

  • absent olfactory bulb (MP:0003451)

  • absent pineal gland (MP:0013362)

  • cleft palate (MP:0000111)

  • encephalomeningocele (MP:0012260)

  • exencephaly (MP:0000914)

  • eyelids open at birth (MP:0001302)

  • hydrocephaly (MP:0001891)

  • polydactyly (MP:0000562)

  • postnatal lethality (MP:0002082)

  • short fibula (MP:0002765)

  • short tibia (MP:0002764)

  • split sternal manubrium (MP:0012667)

  • spongiform encephalopathy (MP:0002654)

  • synostosis (MP:0000566)

  • thin cerebral cortex (MP:0006254)
    • Detailed phenotype data

    Ordering Information

    供与核酸
    Research applicationDevelopmental Biology Research
    提供条件研究成果の公表にあたって寄託者の指定する文献を引用する。Congenital Anomalies, 42, 318-322 (2002). Dev, Brain, Res., 51, 253-258 (1990).
    Depositor成瀬　一郎（鳥取大学）
    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)

    BRC mice in Publications

    Ueta E, Kodama M, Sumino Y, Kurome M, Ohta K, Katagiri R, Naruse I.
    Gender-dependent differences in the incidence of ochratoxin A-induced neural tube defects in the Pdn/Pdn mouse.
    Congenit Anom (Kyoto) 50(1) 29-39(2010) 20201966
    Naruse I, Ueta E, Sumino Y, Ogawa M, Ishikiriyama S.
    Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
    Congenit Anom (Kyoto) 50(1) 1-7(2010) 20201963
    Imai T, Yamazaki T, Kobayakawa R, Kobayakawa K, Abe T, Suzuki M, Sakano H.
    Pre-target axon sorting establishes the neural map topography.
    Science 325(5940) 585-90(2009) 19589963