Strain Data Sheet

RBRC09906

Strain Information

Image
BRC No.RBRC09906
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameB6;B6D2-Fgf9<Eks>
Former Common nameFgf9Eks
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Haruhiko Koseki, RIKEN. Spontaneous mutants were isolated in B6D2 background and then backcrossed to C57BL/6J for serveral generations.
Strain descriptionSpontaneous mouse mutant with a point mutation (N143T) of the Fgf9 gene. Mutants show elbow knee synostosis (eks).
Colony maintenance
References
Elbow knee synostosis (Eks): a new mutation on mouse Chromosome 14.
Murakami H, Okawa A, Yoshida H, Nishikawa S, Moriya H, Koseki H
Mamm. Genome., 13, 341-344 (2002). 12140681

FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.
Harada M, Murakami H, Okawa A, Okimoto N, Hiraoka S, Nakahara T, Akasaka R, Shiraishi Y, Futatsugi N, Mizutani-Koseki Y, Kuroiwa A, Shirouzu M, Yokoyama S, Taiji M, Iseki S, Ornitz D M, Koseki H
Nat. Genet., 41, 289-298 (2009). 19219044

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Fgf9
MGI:104723		fibroblast growth factor 914Fgf9<Eks>
MGI:2182127		elbow knee synostosis
  • multiple synostoses syndrome 3(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal cochlea morphology(MP:0000031)

  • abnormal humerus morphology(MP:0005296)

  • abnormal joint morphology(MP:0002932)

  • abnormal long bone morphology(MP:0003723)

  • abnormal lung morphology(MP:0001175)
    • more 42 phenotypes
  • abnormal radius morphology(MP:0000552)

  • abnormal sternum morphology(MP:0000157)

  • abnormal temporal bone morphology(MP:0005272)

  • abnormal tympanic ring morphology(MP:0000030)

  • abnormal vertebral arch morphology(MP:0004599)

  • abnormal voluntary movement(MP:0003491)

  • cleft secondary palate(MP:0009890)

  • cyanosis(MP:0001575)

  • enlarged Meckel's cartilage(MP:0030372)

  • exophthalmos(MP:0002750)

  • fused joints(MP:0003189)

  • fusion of vertebral arches(MP:0004613)

  • high forehead(MP:0030032)

  • hypopnea(MP:0001956)

  • increased diameter of femur(MP:0008158)

  • increased diameter of fibula(MP:0008159)

  • increased diameter of humerus(MP:0008160)

  • increased diameter of radius(MP:0008161)

  • increased diameter of tibia(MP:0008162)

  • increased diameter of ulna(MP:0008163)

  • kinked tail(MP:0000585)

  • lethality at weaning, incomplete penetrance(MP:0011084)

  • midface hypoplasia(MP:0012085)

  • neonatal lethality, complete penetrance(MP:0011087)

  • ocular hypertelorism(MP:0001300)

  • postnatal growth retardation(MP:0001732)

  • premature coronal suture closure(MP:0030350)

  • premature sagittal suture closure(MP:0030354)

  • short femur(MP:0003109)

  • short fibula(MP:0002765)

  • short humerus(MP:0004351)

  • short limbs(MP:0000547)

  • short nasal bone(MP:0004471)

  • short premaxilla(MP:0000091)

  • short radius(MP:0004355)

  • short sternum(MP:0004321)

  • short tail(MP:0000592)

  • short tibia(MP:0002764)

  • short ulna(MP:0004359)

  • small lung(MP:0003641)

  • synostosis(MP:0000566)

  • wide ribs(MP:0004676)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationDevelopmental Biology Research
    Specific Term and ConditionsRECIPIENT 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.
    DepositorHaruhiko Koseki (RIKEN)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovery and QC required prior to distribution
    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

    No Data