STOCK Braftm1Bbd/Cnbc

Status

Available to order

EMMA IDEM:05944
International strain nameSTOCK Braftm1Bbd/Cnbc
Alternative nameBraf
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolBraftm1Bbd
Gene/Transgene symbolBraf

Information from provider

ProviderMariano Barbacid
Provider affiliationMolecular Oncology, Centro Nacional de Investigaciones Oncologicas
Genetic informationAn frt site and a floxed hygromycin resistance-STOP cassette were inserted in intron 14; additionally a GTG to GAG mutation was created in codon 600 and another frt site was inserted into intron 15. This results in an amino acid substitution of aspartic acid for valine at position 600 and an frt flanked exon 15. RT-PCR analysis indicates that the mutant allele is expressed at about 5-10% the level of the wild-type allele before Cre-mediated excision of the hygromycin-STOP cassette.
Phenotypic informationThis targeted allele, before Cre- or Flp-mediated recombination, allows low levels of expression of B-Raf(V600E). B-Raf(+/LSLV600E) mice are viable and display several of the characteristic features observed in cardiofaciocutaneous (CFC) syndrome patients, including reduced life span, small size, facial dysmorphism, cardiomegaly, and epileptic seizures. In addition, B-Raf(+/LSLV600E) mice develop neuroendocrine tumors, a pathology not observed in CFC patients. The severity of the phenotype depends on the genetic background being more severe in animals with higher C57BL/6 contribution and milder in animals with more CD1 contribution. Never crossed to homozygosity, probably embryonic lethal.
Breeding historyChimeras were crossed with C57BL/6J females for germ line transmission analysis. Line was maintained in heterozygosis. The genetic background involves 129S1/Sv; 129X1/SvJ; C57BL/6J and CD1. The CD1 genetic background was introduced to reduce the severity of the phenotype, otherwise the line was almost impossible to maintain.
References
  • Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.;Urosevic Jelena, Sauzeau Vincent, Soto-Montenegro María L, Reig Santiago, Desco Manuel, Wright Emma M Burkitt, Cañamero Marta, Mulero Francisca, Ortega Sagrario, Bustelo Xosé R, Barbacid Mariano, ;2011;Proceedings of the National Academy of Sciences of the United States of America;108;5015-20; 21383153
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain
Animals used for archivingheterozygous mixed

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal neurocranium morphology / MGI
  • abnormal frontal bone morphology / MGI
  • abnormal parietal bone morphology / MGI
  • enlarged heart / MGI
  • abnormal cell morphology / MGI
  • shortened head / MGI
  • abnormal thymus morphology / MGI
  • decreased thymocyte number / MGI
  • decreased body weight / MGI
  • decreased body size / MGI
  • cataract / MGI
  • abnormal mating frequency / MGI
  • hyperactivity / MGI
  • decreased white adipose tissue amount / MGI
  • abnormal immune system physiology / MGI
  • premature death / MGI
  • abnormal kidney morphology / MGI
  • oliguria / MGI
  • thymus atrophy / MGI
  • decreased creatinine clearance / MGI
  • abnormal pancreatic acinar cell morphology / MGI
  • increased splenocyte apoptosis / MGI
  • abnormal skin sebaceous gland morphology / MGI
  • increased thymocyte apoptosis / MGI
  • abnormal basicranium morphology / MGI
  • round head / MGI
  • increased circulating noradrenaline level / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • heart hyperplasia / MGI
  • convulsive seizures / MGI
  • increased metastatic potential / MGI
  • increased lung adenoma incidence / MGI
  • increased pheochromocytoma incidence / MGI
  • abnormal astrocyte morphology / MGI
  • tachypnea / MGI
  • increased cardiac muscle contractility / MGI
  • abnormal dermal melanocyte morphology / MGI
  • increased gland tumor incidence / MGI
MGI phenotypes (gene matching)
  • abnormal neurocranium morphology / MGI
  • abnormal frontal bone morphology / MGI
  • abnormal parietal bone morphology / MGI
  • abnormal aorta morphology / MGI
  • enlarged heart / MGI
  • heart hyperplasia / MGI
  • abnormal cell morphology / MGI
  • abnormal head morphology / MGI
  • shortened head / MGI
  • abnormal thymus morphology / MGI
  • decreased thymocyte number / MGI
  • abnormal stratification in cerebral cortex / MGI
  • abnormal visual cortex morphology / MGI
  • abnormal somatosensory cortex morphology / MGI
  • abnormal telencephalon development / MGI
  • convulsive seizures / MGI
  • decreased body weight / MGI
  • decreased body size / MGI
  • increased metastatic potential / MGI
  • cataract / MGI
  • abnormal mating frequency / MGI
  • hyperactivity / MGI
  • abnormal blood vessel morphology / MGI
  • poor circulation / MGI
  • abnormal apoptosis / MGI
  • decreased embryo size / MGI
  • abnormal placenta morphology / MGI
  • abnormal placenta labyrinth morphology / MGI
  • decreased white adipose tissue amount / MGI
  • abnormal immune system physiology / MGI
  • hemorrhage / MGI
  • intraventricular hemorrhage / MGI
  • increased lung adenoma incidence / MGI
  • increased pheochromocytoma incidence / MGI
  • premature death / MGI
  • abnormal kidney morphology / MGI
  • no abnormal phenotype detected / MGI
  • abnormal astrocyte morphology / MGI
  • abnormal long term object recognition memory / MGI
  • abnormal neuron morphology / MGI
  • increased neuron apoptosis / MGI
  • abnormal vitelline vasculature morphology / MGI
  • oliguria / MGI
  • thymus atrophy / MGI
  • embryonic growth retardation / MGI
  • abnormal spongiotrophoblast layer morphology / MGI
  • small placenta / MGI
  • abnormal cardinal vein morphology / MGI
  • decreased spleen weight / MGI
  • decreased thymus weight / MGI
  • abnormal trophoblast layer morphology / MGI
  • hemopericardium / MGI
  • decreased heart rate / MGI
  • behavior/neurological phenotype / MGI
  • tachypnea / MGI
  • decreased creatinine clearance / MGI
  • increased cardiac muscle contractility / MGI
  • increased circulating noradrenaline level / MGI
  • increased apoptosis / MGI
  • abnormal vascular endothelial cell morphology / MGI
  • increased vascular endothelial cell number / MGI
  • thin cerebral cortex / MGI
  • abnormal placental labyrinth vasculature morphology / MGI
  • hematoma / MGI
  • abnormal pancreatic acinar cell morphology / MGI
  • increased splenocyte apoptosis / MGI
  • abnormal dermal melanocyte morphology / MGI
  • decreased embryo weight / MGI
  • abnormal skin sebaceous gland morphology / MGI
  • increased thymocyte apoptosis / MGI
  • abnormal cerebral cortex pyramidal cell morphology / MGI
  • abnormal basicranium morphology / MGI
  • increased gland tumor incidence / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • round head / MGI

Literature references

  • Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.;Urosevic Jelena, Sauzeau Vincent, Soto-Montenegro María L, Reig Santiago, Desco Manuel, Wright Emma M Burkitt, Cañamero Marta, Mulero Francisca, Ortega Sagrario, Bustelo Xosé R, Barbacid Mariano, ;2011;Proceedings of the National Academy of Sciences of the United States of America;108;5015-20; 21383153

Information on how we integrate external resources can be found here

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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Legally binding conditions for the transfer

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