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Phenotypes Associated with This Genotype
Genotype
MGI:4946650
Allelic
Composition
Braftm1Bbd/Braf+
Genetic
Background
B6.129-Braftm1Bbd
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
• most mice die before 12 weeks of age
• Background Sensitivity: life span is reduced compared to mice on 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

cardiovascular system
• increase in the heart to body weight ratio

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

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

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

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

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

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

renal/urinary system
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
• at 2 months of age
• at 2 months of age

skeleton
• defects in the shape of the skull vault

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