Strain Data Sheet

RBRC09731

Strain Information

Image
BRC No.RBRC09731
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameICR.Cg-Braf<tm1.1Tumg>
Former Common nameBraf Q241R/+ ICR (Braf Q241R knock-in mice; ICR background)
H-2 Haplotype
ES Cell lineBruce 4 [B6.Cg-Thy1<a>]
Background strain
Appearance
Strain developmentDeveloped by Yoko Aoki and Shin-ichi Inoue, Tohoku University School of Medicine in 2014. BRUCE-4 ES cells were used. RBRC09730 was crossed with CAG-Cre and then backcrossed to ICR for 11 generations.
Strain descriptionBraf-mutated protein (BrafQ241R) knock-in mice in ICR genetic background. Q241R mutation in mouse Braf corresponds to Q257R in human BRAF, the most frequent mutation in the cardio-facio-cutaneous (CFC) syndrome. Conditional BrafQ241R knock-in mice are available as RBRC09730.
Colony maintenance
References
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y
Human Molecular Genetics, 23, 6553-6566 (2014). 25035421

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y
Human Molecular Genetics, 24, 7349-7360 (2015). 26472072

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
BrafBraf transforming gene6Braftargeted mutation 1.1, Yoko Aoki
  • cardiofaciocutaneous syndrome 1(MedGEN)

  • cardiofaciocutaneous syndrome(DisGeNET)

  • colorectal cancer(MedGEN)
    • more 8 Diseases
  • Langerhans cell histiocytosis(DisGeNET)

  • LEOPARD syndrome 3(MedGEN)

  • lung cancer(MedGEN)

  • melanoma(DisGeNET)

  • melanoma, cutaneous malignant, susceptibility to, 1(MedGEN)

  • Noonan syndrome 1(MedGEN)

  • Noonan syndrome 7(MedGEN)

  • thyroid gland papillary carcinoma(DisGeNET)
    • loxPphage P1 loxP6loxP
  • cardiofaciocutaneous syndrome 1(MedGEN)

  • cardiofaciocutaneous syndrome(DisGeNET)

  • colorectal cancer(MedGEN)
    • more 8 Diseases
  • Langerhans cell histiocytosis(DisGeNET)

  • LEOPARD syndrome 3(MedGEN)

  • lung cancer(MedGEN)

  • melanoma(DisGeNET)

  • melanoma, cutaneous malignant, susceptibility to, 1(MedGEN)

  • Noonan syndrome 1(MedGEN)

  • Noonan syndrome 7(MedGEN)

  • thyroid gland papillary carcinoma(DisGeNET)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal atrioventricular cushion morphology(MP:0000297)

  • abnormal coronary artery morphology(MP:0004111)

  • abnormal epicardium morphology(MP:0003057)

  • abnormal heart development(MP:0000267)

  • abnormal heart morphology(MP:0000266)
    • more 48 phenotypes
  • abnormal locomotor behavior(MP:0001392)

  • abnormal lymph organ development(MP:0002450)

  • abnormal myocardial fiber morphology(MP:0000278)

  • abnormal myocardial trabeculae morphology(MP:0002189)

  • abnormal pulmonary valve cusp morphology(MP:0010602)

  • atrial septal defect(MP:0010403)

  • cyanosis(MP:0001575)

  • decreased cranium length(MP:0011862)

  • decreased food intake(MP:0011940)

  • decreased liver weight(MP:0003402)

  • decreased vertical activity(MP:0002757)

  • edema(MP:0001785)

  • enlarged heart(MP:0000274)

  • enlarged mitral valve(MP:0010618)

  • enlarged pulmonary valve(MP:0010600)

  • enlarged tricuspid valve(MP:0010627)

  • female infertility(MP:0001926)

  • hemorrhage(MP:0001914)

  • hepatic necrosis(MP:0001654)

  • impaired contextual conditioning behavior(MP:0009454)

  • increased heart weight(MP:0002833)

  • kyphosis(MP:0000160)

  • lethality throughout fetal growth and development, incomplete penetrance(MP:0011109)

  • long nails(MP:0012401)

  • mandible hypoplasia(MP:0000460)

  • nail dystrophy(MP:0012400)

  • neonatal lethality, complete penetrance(MP:0011087)

  • ostium secundum atrial septal defect(MP:0010405)

  • ovary cyst(MP:0002016)

  • patent cardiac foramen ovale(MP:0004225)

  • polydactyly(MP:0000562)

  • postnatal growth retardation(MP:0001732)

  • postnatal lethality, complete penetrance(MP:0011085)

  • postnatal lethality, incomplete penetrance(MP:0011086)

  • premature death(MP:0002083)

  • pulmonary alveolar hemorrhage(MP:0010909)

  • pulmonary valve stenosis(MP:0006128)

  • round head(MP:0030245)

  • ruffled hair(MP:0000420)

  • slow postnatal weight gain(MP:0008489)

  • small liver(MP:0000601)

  • sparse hair(MP:0000416)

  • thick mitral valve cusps(MP:0010617)

  • thick pulmonary valve cusps(MP:0010605)

  • thick pulmonary valve(MP:0010601)

  • thick tricuspid valve(MP:0010629)

  • thin myocardium compact layer(MP:0004057)

  • ventricular septal defect(MP:0010402)
    • Detailed phenotype data

    Ordering Information

    Donor DNABacteriophage P1 loxP site, mouse Braf genomic DNA
    Research applicationCancer Research
    Cell Biology Research
    Cre/loxP system
    Mouse Models for Human Disease
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form. 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. Human Molecular Genetics, 23, 6553-6566 (2014). Human Molecular Genetics, 24, 7349-7360 (2015).In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT agrees to use this BIOLOGICAL RESOURCE as a collaboration with the DEPOSITOR. 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.
    DepositorYoko Aoki (Tohoku University)
    Strain Statusan 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. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    4. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-
    Mouse of the Month Nov 2022

    BRC mice in Publications

    No Data