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Phenotypes Associated with This Genotype
Genotype
MGI:4946647
Allelic
Composition
Braftm1Bbd/Braf+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Braftm1Bbd mutation (1 available); any Braf mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 60% of mice survive past 40 weeks of age
• Background Sensitivity: life span is increased compared to mice on an inbred C57BL/6J or a mixed 129 and C57BL/6J background

craniofacial
• defects in the shape of the skull vault
• rounder and shorter head
• rounder and shorter head

growth/size/body
• increase in the heart to body weight ratio
• rounder and shorter head
• rounder and shorter head
• by P5
• phenotype becomes worse with age
• by P5
• phenotype becomes worse with age

behavior/neurological
• characterized by increase in the frequency of repetitive movements and locomotion
• males fail to mate but are not infertile
• Background Sensitivity: crossing onto a CD1 background reduces the breeding problems
• develop epileptic seizures around 12 weeks of age
• incidence of mice with seizures increase with age until about 20 weeks of age
• seizures appear in response to handling

cardiovascular system
• increase in the heart to body weight ratio
• increase in the ejection fraction and a decrease in the end diastolic and systolic volumes
• however, no difference in systolic arterial blood pressure is detected compared to wild-type controls

vision/eye
• seen in 40% of mice by 8 weeks of age
• incidence increases with age

neoplasm
• develop paragangliomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
• develop pheochromocytomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
• about 20% of tumor bearing mice show metastatis to distant tissue
• a few mice develop lung adenomas (grades II-III)

integument
• about 50% of mice that become ill by 3 weeks of age have reduced numbers and size of sebaceous glands in the skin
• melanocytic hyperplasia in the dermis

cellular
• most cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
• this reduction is more evident in the kidney and in pancreatic acinar cells
• in mice that become ill by 3 weeks of age
• massive apoptosis in the spleen white pulp in mice that become ill by 3 weeks of age

immune system
• thymic disorganization and atrophy is seen in mice that become ill by 3 weeks of age
• in mice that become ill by 3 weeks of age
• decrease in the number of immature terminal deoxynucleotidyl transferase (TdT)-positive thymocytes in mice that become ill by 3 weeks of age
• all tissues with lymphoid aggregates show massive apoptosis in mice that become ill by 3 weeks of age
• in mice that become ill by 3 weeks of age
• massive apoptosis in the spleen white pulp in mice that become ill by 3 weeks of age

adipose tissue
• in about 50% of mice that become ill by 3 weeks of age

endocrine/exocrine glands
• in mice that become ill by 3 weeks of age
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
• thymic disorganization and atrophy is seen in mice that become ill by 3 weeks of age
• in mice that become ill by 3 weeks of age
• decrease in the number of immature terminal deoxynucleotidyl transferase (TdT)-positive thymocytes in mice that become ill by 3 weeks of age
• about 50% of mice that become ill by 3 weeks of age have reduced numbers and size of sebaceous glands in the skin
• develop paragangliomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
• develop pheochromocytomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)

renal/urinary system
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age

respiratory system
• a few mice develop lung adenomas (grades II-III)
• at 4 months of age

nervous system
• develop epileptic seizures around 12 weeks of age
• incidence of mice with seizures increase with age until about 20 weeks of age
• seizures appear in response to handling
• increase in the number of astrocytes in the brain at 8 weeks of age, independent of seizures

pigmentation
• melanocytic hyperplasia in the dermis

muscle
• increase in the ejection fraction and a decrease in the end diastolic and systolic volumes
• however, no difference in systolic arterial blood pressure is detected compared to wild-type controls

skeleton
• defects in the shape of the skull vault

digestive/alimentary system
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age

hematopoietic system
• in mice that become ill by 3 weeks of age
• massive apoptosis in the spleen white pulp in mice that become ill by 3 weeks of age
• thymic disorganization and atrophy is seen in mice that become ill by 3 weeks of age
• in mice that become ill by 3 weeks of age
• decrease in the number of immature terminal deoxynucleotidyl transferase (TdT)-positive thymocytes in mice that become ill by 3 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cardiofaciocutaneous syndrome DOID:0060233 OMIM:PS115150
J:170095


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