Strain Data Sheet

RBRC00598

Strain Information

Image
BRC No.RBRC00598
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameJF1/Ms-Hx
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain description
Colony maintenance
References

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ednrb
MGI:102720		endothelin receptor type B14Ednrb
  • ABCD syndrome(MedGEN)

  • Hirschsprung disease, susceptibility to, 2(MedGEN)

  • Waardenburg syndrome type 4A(DisGeNET, MedGEN)
    • Shh
    MGI:98297    		sonic hedgehog5Shh<Hx>
    MGI:1860897    		hemimelic extra toes
  • holoprosencephaly 3(DisGeNET, MedGEN)

  • microphthalmia, isolated, with coloboma 5(MedGEN)

  • schizencephaly(MedGEN)
    • more 1 Diseases
  • solitary median maxillary central incisor syndrome(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal digit morphology (MP:0002110)

  • abnormal metatarsal bone morphology (MP:0003072)

  • abnormal talus morphology (MP:0005109)

  • abnormal tarsal bone morphology (MP:0005104)

  • abnormal tibia morphology (MP:0000558)
    • more 12 phenotypes
  • abnormal zone of polarizing activity morphology (MP:0012528)

  • cleft hard palate (MP:0013545)

  • decreased metatarsal bone number (MP:0004640)

  • ectrodactyly (MP:0005230)

  • embryonic lethality during organogenesis, complete penetrance (MP:0011098)

  • hemimelia (MP:0008985)

  • increased bleeding time (MP:0005606)

  • neonatal lethality, incomplete penetrance (MP:0011088)

  • polydactyly (MP:0000562)

  • short radius (MP:0004355)

  • short tibia (MP:0002764)

  • syndactyly (MP:0000564)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use based on the results from the use of the BIOLOGICAL RESOURCE.
    DepositorToshihiko Shiroishi (National Institute of Genetics)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovery and QC required prior to distribution
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    No Data