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Phenotypes Associated with This Genotype
Genotype
MGI:5000310
Allelic
Composition
Sos1tm1.2Rak/Sos1+
Genetic
Background
involves: 129S/Sv * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sos1tm1.2Rak mutation (1 available); any Sos1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cardiac defects in Sos1tm1.2Rak/Sos1tm1.2Rak and Sos1tm1.2Rak/Sos1+ mice

cardiovascular system
N
• mice exhibit normal blood pressure
• mice exhibit some adipocyte infiltration in the heart unlike in wild-type mice
• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice
• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice
• in some mice at 8.5 months of age due to thickened leaflets
• in some mice
• mice exhibit severe focal and interstitial fibrosis unlike wild-type mice
• at E15.5, mice exhibit increased proliferation and decreased apoptosis in the interventricular septal and aortic valve tissues compared with wild-type mice
• in some mice
• at E15.5, mice exhibit increased proliferation and decreased apoptosis in the interventricular septal and aortic valve tissues compared with wild-type mice

craniofacial
• at 3 months, mice exhibit a tend towards triangular faces with blunter snouts because of depression of the anterior frontal bone compared with wild-type mice
• however, treatment with PD0325901 improves facial dysmorphia
• at 3 months
• at 3 months, mice exhibit depression of the anterior frontal bone compared with wild-type mice

growth/size/body
• however, treatment with PD0325901 improves body weight

hematopoietic system
• mice exhibit increased myeloid cells in the bone marrow and spleen compared with wild-type mice
• bone marrow cells treated with GM-CSF or IL3 produce increased myeloid colony formation compared with wild-type cells
• by 5 months, mice exhibit increased erythropoiesis compared with wild-type mice
• subtle at 5 months
• by 5 months

homeostasis/metabolism
• in some mice
• in some mice

immune system
• subtle at 5 months
• by 5 months

integument
• in some mice

muscle
• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice
• at E15.5, mice exhibit increased proliferation and decreased apoptosis in the interventricular septal and aortic valve tissues compared with wild-type mice

skeleton
• at 3 months
• at 3 months, mice exhibit depression of the anterior frontal bone compared with wild-type mice

vision/eye
• at 3 months

cellular
• at E15.5, mice exhibit increased proliferation and decreased apoptosis in the interventricular septal and aortic valve tissues compared with wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Noonan syndrome 4 DOID:0060582 OMIM:610733
J:171873


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
10/08/2019
MGI 6.14
The Jackson Laboratory