Strain Data Sheet

RBRC-GSC0164

Strain Information

Image
BRC No.RBRC-GSC0164
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameM100856
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain descriptionHeterozygotes usually show shortening of humerus. In sever case, the reduction was observed in radius, ulna and hind limbs. [Modified-SHIRPA Q43,44=3]
Colony maintenance
References

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Col2a1
MGI:88452		collagen, type II, alpha 115Col2a1<Rgsc856>
MGI:3808759		RIKEN Genomic Sciences Center (GSC), 856
  • achondrogenesis type II(DisGeNET, MedGEN)

  • avascular necrosis of femoral head, primary, 1(MedGEN)

  • Kniest dysplasia(DisGeNET, MedGEN)
    • more 13 Diseases
  • Legg-Calve-Perthes disease(MedGEN)

  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis(MedGEN)

  • multiple epiphyseal dysplasia, Beighton type(MedGEN)

  • platyspondylic dysplasia, Torrance type(MedGEN)

  • spondyloepimetaphyseal dysplasia, Strudwick type(MedGEN)

  • spondyloepiphyseal dysplasia congenita(DisGeNET, MedGEN)

  • spondyloepiphyseal dysplasia with metatarsal shortening(MedGEN)

  • spondyloepiphyseal dysplasia, Stanescu type(MedGEN)

  • spondylometaphyseal dysplasia, 'corner fracture' type(MedGEN)

  • spondyloperipheral dysplasia(MedGEN)

  • Stickler syndrome type 1(DisGeNET, MedGEN)

  • Stickler syndrome, type I, nonsyndromic ocular(MedGEN)

  • vitreoretinopathy with phalangeal epiphyseal dysplasia(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal chondrocyte morphology (MP:0000166)

  • abnormal chondrocyte physiology (MP:0009780)

  • abnormal epiphyseal plate morphology (MP:0006395)

  • abnormal forelimb morphology (MP:0000550)

  • abnormal hindlimb morphology (MP:0000556)
    • more 17 phenotypes
  • abnormal long bone epiphyseal plate proliferative zone (MP:0003662)

  • abnormal pelvic girdle bone morphology (MP:0004509)

  • abnormal skeleton morphology (MP:0005508)

  • abnormal vertebrae morphology (MP:0000137)

  • brachydactyly (MP:0002544)

  • decreased fetal size (MP:0004200)

  • micromelia (MP:0008736)

  • perinatal lethality, complete penetrance (MP:0011089)

  • platyspondylia (MP:0011175)

  • short femur (MP:0003109)

  • short humerus (MP:0004351)

  • short limbs (MP:0000547)

  • short radius (MP:0004355)

  • short snout (MP:0000445)

  • short ulna (MP:0004359)

  • skeleton phenotype (MP:0005390)

  • vertebral body hypoplasia (MP:0004667)
    • Detailed phenotype dataPhenopub Link

    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 spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    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

    Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, Imaizumi K, Kudo T, Ohkawa K, Wakana S, Ikegawa S.
    ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
    Mamm Genome 22(5-6) 318-28(2011) 21538020