Strain Data Sheet

RBRC-GSC0092

Strain Information

Image
BRC No.RBRC-GSC0092
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameM100514
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain descriptionIncisor show rough surface. Enamel was affected. [Modified SHIRPA Q37=1] A point mutation was found in Enam gene. (Masuya et al, Human Molecular Genetics 14 575-583 (2005)).
Colony maintenance
References

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Enamenamelin5EnamRIKEN Genomic Sciences Center (GSC), 514
  • amelogenesis imperfecta type 1B(DisGeNET, MedGEN)

  • amelogenesis imperfecta type 1C(MedGEN)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal enamel morphology(MP:0002576)

  • abnormal tooth morphology(MP:0002100)
  • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsThe RECIPIENT of for-profit institution must contact the DEPOSITOR separately.
    The RECIPIENT of not for-profit institution must contact and discuss in good faith with the DEPOSITOR regarding inventorship, ownership, patent filing and licese fees and others, prior to filing a patent or make a contract with license fees with a third party for invention or products obtained from research results by using the BIOLOGICAL RESOURCES.
    DepositorRIKEN GSC (RIKEN GSC)
    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)

    BRC mice in Publications

    清水邦彦,小川京,金尾貴子,牧山(加藤)早紀,太田雪菜,根本(山本)晴子,清水武彦
    エナメル質形成不全症を示すエナメリン遺伝子変異マウスのエナメル質形成の解析
    日大口腔科学 48巻3号 130-137(2022)