Phenotypes Associated with This Genotype

Genotype
MGI:5000310

• Allelic Composition: Sos1^tm1.2Rak/Sos1⁺
• Genetic Background: involves: 129S/Sv * C57BL/6 * FVB/N * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Cardiac defects in Sos1^tm1.2Rak/Sos1^tm1.2Rak and Sos1^tm1.2Rak/Sos1⁺ mice

cardiovascular system

cardiovascular system phenotype ( J:171873 )

N • mice exhibit normal blood pressure

abnormal heart morphology ( J:171873 )

• mice exhibit some adipocyte infiltration in the heart unlike in wild-type mice

abnormal myocardial fiber morphology ( J:171873 )

• irregularly shaped

increased myocardial fiber size ( J:171873 )

thick interventricular septum ( J:171873 )

abnormal heart left ventricle morphology ( J:171873 )

• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice

heart left ventricle hypertrophy ( J:171873 )

• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice

thick aortic valve cusps ( J:171873 )

aortic valve stenosis ( J:171873 )

• in some mice at 8.5 months of age due to thickened leaflets

pericardial effusion ( J:171873 )

• in some mice

cardiac fibrosis ( J:171873 )

• mice exhibit severe focal and interstitial fibrosis unlike wild-type mice

cardiac interstitial fibrosis ( J:171873 )

abnormal cardiovascular system physiology ( J:171873 )

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

hemorrhage ( J:171873 )

• in some mice

abnormal fetal cardiomyocyte proliferation ( J:171873 )

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

increased cardiomyocyte apoptosis ( J:171873 )

craniofacial

abnormal craniofacial morphology ( J:171873 )

• 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

decreased cranium height ( J:171873 )

• at 3 months

abnormal frontal bone morphology ( J:171873 )

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

growth/size/body

heart left ventricle hypertrophy ( J:171873 )

• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice

decreased body size ( J:171873 )

decreased body weight ( J:171873 )

• however, treatment with PD0325901 improves body weight

decreased body length ( J:171873 )

enlarged spleen ( J:171873 )

• by 5 months

hematopoietic system

enlarged spleen ( J:171873 )

• by 5 months

abnormal common myeloid progenitor cell morphology ( J:171873 )

• 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

abnormal erythropoiesis ( J:171873 )

• by 5 months, mice exhibit increased erythropoiesis compared with wild-type mice

extramedullary hematopoiesis ( J:171873 )

• by 5 months

increased megakaryocyte cell number ( J:171873 )

• by 5 months

increased leukocyte cell number ( J:171873 )

• subtle at 5 months

increased neutrophil cell number ( J:171873 )

• in some mice

increased spleen red pulp amount ( J:171873 )

homeostasis/metabolism

pericardial effusion ( J:171873 )

• in some mice

skin edema ( J:171873 )

• in some mice

immune system

enlarged spleen ( J:171873 )

• by 5 months

increased leukocyte cell number ( J:171873 )

• subtle at 5 months

increased neutrophil cell number ( J:171873 )

• in some mice

increased spleen red pulp amount ( J:171873 )

integument

skin edema ( J:171873 )

• in some mice

muscle

abnormal myocardial fiber morphology ( J:171873 )

• irregularly shaped

increased myocardial fiber size ( J:171873 )

heart left ventricle hypertrophy ( J:171873 )

• mice exhibit increased left ventricular end-diastolic diameter compared with wild-type mice

abnormal fetal cardiomyocyte proliferation ( J:171873 )

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

increased cardiomyocyte apoptosis ( J:171873 )

skeleton

decreased cranium height ( J:171873 )

• at 3 months

abnormal frontal bone morphology ( J:171873 )

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

vision/eye

ocular hypertelorism ( J:171873 )

• at 3 months

cellular

cardiac interstitial fibrosis ( J:171873 )

abnormal fetal cardiomyocyte proliferation ( J:171873 )

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

increased cardiomyocyte apoptosis ( J:171873 )

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