Mouse Genome Informatics
ht
    Raf1tm1.1Bgn/Raf1+
involves: 129S6/SvEvTac * C57BL/6NCr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• following transverse aortic constriction

cardiovascular system
N
• fetal cardiomyocyte proliferation and valve development are normal (J:172034)
• following transverse aortic constriction
• at 8 weeks of age
• however, treatment with a MEK inhibitor rescues cardiomyocyte enlargement
• as early as 2 weeks after birth
• following transverse aortic constriction
• however, treatment with MEK inhibitor rescues cardiac hypertrophy
• increased left ventricular diastolic posterior wall thickness
• increased left ventricular internal end-diastolic dimension
• mice exhibit increased ventricular wall thickness compared with wild-type mice
• at 2 and 4 months of age, left ventricular diastolic posterior wall thickness is increased compared to in wild-type mice
• following transverse aortic constriction
• at 4 months, mice exhibit increased left ventricle internal end-diastolic dimension (LVIDd) compared with wild-type mice
• however, LVIDd is normal at 2 months of age and left ventricle internal end-systolic dimension is normal
• following transverse aortic constriction, mice exhibit severe cardiac interstitial fibrosis and perivascular fibrosis compared with wild-type mice
• following transverse aortic constriction
• mice exhibit abnormal cardiac function compared with wild-type mice
• however, treatment with a MEK inhibitor normalizes cardiac function
• as early as 2 weeks after birth
• at 2 and 4 months (J:172034)
• increased (J:189143)
• at 2 and 4 months, mice exhibit increased stroke volume compared with wild-type mice (J:172034)
• following transverse aortic constriction, mice exhibit increased stroke volume compared with wild-type mice (J:172034)
• following transverse aortic constriction
• at 2 and 4 months, mice exhibit increased ejection fraction and fractional shortening compared with wild-type mice (J:172034)
• however, cardiac relaxation is normal (J:172034)
• increased fractional shortening and ejection fraction (J:189143)
• at 4 months, mice exhibit decreased left ventricle pressure compared with wild-type mice
• following transverse aortic constriction
• following transverse aortic constriction, mice exhibit increased lethality, ventricular and left atrial enlargement, increased heart weight, severe interstitial fibrosis, perivascular fibrosis, deteriorating cardiac function (stroke volume and fractional shortening), decreased cardiac contractility, infarct, and fatal, functional decompensation in some mice compared with wild-type mice

immune system
• at 1 year of age
• at 1 year of age
• increasing in severity with age

craniofacial
• mice exhibit facial dysmorphia compared with wild-type mice
• however, treatment with a MEK inhibitory rescues facial dysmorphia

growth/size
• mice exhibit facial dysmorphia compared with wild-type mice
• however, treatment with a MEK inhibitory rescues facial dysmorphia
• at weaning
• however, mice treated with a MEK inhibitor normalizes weight
• however, mice treated with a MEK inhibitor normalizes length

homeostasis/metabolism
• following transverse aortic constriction, mice exhibit increased lethality, ventricular and left atrial enlargement, increased heart weight, severe interstitial fibrosis, perivascular fibrosis, deteriorating cardiac function (stroke volume and fractional shortening), decreased cardiac contractility, infarct, and fatal, functional decompensation in some mice compared with wild-type mice

muscle
• at 8 weeks of age
• however, treatment with a MEK inhibitor rescues cardiomyocyte enlargement
• as early as 2 weeks after birth
• following transverse aortic constriction
• at 2 and 4 months, mice exhibit increased ejection fraction and fractional shortening compared with wild-type mice (J:172034)
• however, cardiac relaxation is normal (J:172034)
• increased fractional shortening and ejection fraction (J:189143)

skeleton

vision/eye

hematopoietic system
• myeloid progenitors are expanded compared to in wild-type mice
• at 1 year of age
• at 1 year of age
• increasing in severity with age

Mouse Models of Human Disease
OMIM IDRef(s)
Noonan Syndrome 5; NS5 611553 J:172034