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Phenotypes Associated with This Genotype
Genotype
MGI:5000309
Allelic
Composition
Sos1tm1.2Rak/Sos1tm1.2Rak
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

mortality/aging
• mice that survive birth die exhibit premature lethality
• fewer than expected mice are present at E15.5
• fewer than expected mice are present at E10.5 and E13.5
• however, treatment with the MEK inhibitor PD0325901 improves embryonic lethality

cardiovascular system
• mice exhibit adipocyte infiltration in the ventricular myocardium and the surrounding blood vessels unlike in wild-type mice
• however, mice treated with PD0325901 exhibit no anatomical heart abnormalities
• at E15.5 and at 3 months
• at E15.5 and at 3 months due to thickened leaflets
• at 3 months, mice exhibit epicardial and myocardial 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
• mice exhibit subcutaneous hemorrhage 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

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

homeostasis/metabolism

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

integument

muscle
• 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
10/15/2019
MGI 6.14
The Jackson Laboratory