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Phenotypes Associated with This Genotype
Genotype
MGI:5902221
Allelic
Composition
Braftm1Tumg/Braf+
Tg(CAG-cre)2Osb/0
Genetic
Background
involves: C57BL * C57BL/6J * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Braftm1Tumg mutation (0 available); any Braf mutation (58 available)
Tg(CAG-cre)2Osb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 93% of hearts at E16.5 show various defects
• 3 of 14 embryos show hypoplasia of the coronary arteries
• E14.5 hearts show an increase in density of trabeculae (hypertrabeculation)
• 4 of 14 embryos exhibit a thickened trabecular layer and thinned compact layer in the left, right, or combined myocardium
• 4 of 14 embryos exhibit a thickened trabecular layer and thinned compact layer in the left, right, or combined myocardium
• hearts exhibit enhanced cell proliferation
• at E13.5, the interventricular septum and myocardium show enhanced cell proliferation
• at E16.5, the pulmonary valves and the interventricular septum in fetuses with ventricular septal defect, show enhanced cell proliferation
• 2 of 14 embryos exhibit abnormal endocardial cushion
• 9 of 14 embryos show hypertrophy of mitral valves
• co-treatment with PD0325901 and an inhibitor of histone H3K27 demethylase UTX, GSK-J4, ameliorates enlarged mitral valves, however, no difference in the frequency of heart defects is seen
• 8 of 14 embryos show hypertrophy of tricuspid valves
• co-treatment with PD0325901 and an inhibitor of histone H3K27 demethylase UTX, GSK-J4, ameliorates enlarged tricuspid valves, however, no difference in the frequency of heart defects is seen
• ventricular radius and the thickness of the tricuspid valves are higher
• 2 of 14 embryos exhibit ventricular septal defect
• increase in heart size at E16.5
• hypertrophy in pulmonary valve leaflets is prominent, plugging the entire space of the pulmonary valve ring
• E12.5 hearts show an enlarged pulmonary valve
• co-treatment with PD0325901 and an inhibitor of histone H3K27 demethylase UTX, GSK-J4, ameliorates enlarged pulmonary valves, however, no difference in the frequency of heart defects is seen
• 7 of 14 embryos show hypertrophy of pulmonary valves
• ventricular radius and the thickness of the pulmonary valves are higher
• 2 of 14 embryos show epicardial blisters
• at E16.5, about 9.8% of embryos are hemorrhagic and edematous
• about 11.1% of fetuses at E18.5 and E19.5 show alveolar hemorrhage
• however, lungs are able to inflate

immune system
• cavities such as the jugular lymphatic sacs from E12.5 to E14.5 are observed unlike in wild-type where they are hardly observed at this time, suggesting defective lymphatic development from the cardinal vein
• marker analysis indicates that embryos show defective lymphatic development from the cardinal vein, leading to distended and blood-filled jugular lymphatic sacs at E12.5 and E16.5, dilated lymphatic vessels and edema

craniofacial
• 5.1% of embryos show mandibular hypoplasia and kyphosis

homeostasis/metabolism
• embryos delivered by cesarean section at E18.5 and E19.5 are pale, without movement and gasp for breath with cyanotic appearance and death within a few hours
• at E16.5, about 9.8% of embryos are hemorrhagic and edematous

liver/biliary system
• 88% of E18.5 fetuses show severe peripheral liver necrosis with decreased liver size and liver weight
• decrease in liver weight is seen already at E16.5

mortality/aging
• no surviving mice are seen at weaning and survival rate of embryos drops after E16.5 indicating embryonic and neonatal lethality
• treatment of pregnant mice with the MEK inhibitor PD0325901 partly rescues embryonic lethality and combined treatment with PD0325901 and a histone demethylase inhibitor further increases survival rate
• no surviving mice are seen at weaning and survival rate of embryos drops after E16.5 indicating embryonic and neonatal lethality

muscle
• E14.5 hearts show an increase in density of trabeculae (hypertrabeculation)
• 4 of 14 embryos exhibit a thickened trabecular layer and thinned compact layer in the left, right, or combined myocardium
• 4 of 14 embryos exhibit a thickened trabecular layer and thinned compact layer in the left, right, or combined myocardium

respiratory system
• about 11.1% of fetuses at E18.5 and E19.5 show alveolar hemorrhage
• however, lungs are able to inflate

skeleton
• 5.1% of embryos show mandibular hypoplasia and kyphosis
• 5.1% of embryos show mandibular hypoplasia and kyphosis

cellular
• 88% of E18.5 fetuses show severe peripheral liver necrosis with decreased liver size and liver weight

growth/size/body
• increase in heart size at E16.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cardiofaciocutaneous syndrome DOID:0060233 OMIM:PS115150
J:216228


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory