Analysis Tools|
Allele Symbol Allele Name Allele ID |
Raf1+ wild type MGI:2431790 |
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| Summary |
6 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Raf1tm1.1Bgn/Raf1+ mice show multiple Noonan syndrome phenotypes including short stature, facial dysmorphia and splenomegaly
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• following transverse aortic constriction
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| N |
• fetal cardiomyocyte proliferation and valve development are normal
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• at 8 weeks of age
• however, treatment with a MEK inhibitor rescues cardiomyocyte enlargement
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• following transverse aortic constriction
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• as early as 2 weeks after birth
• following transverse aortic constriction
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• however, treatment with MEK inhibitor rescues cardiac hypertrophy
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• increased left ventricular diastolic posterior wall thickness
• increased left ventricular internal end-diastolic dimension
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• following transverse aortic constriction
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• 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
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• 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
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• following transverse aortic constriction, mice exhibit severe cardiac interstitial fibrosis and perivascular fibrosis compared with wild-type mice
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• following transverse aortic constriction
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• mice exhibit abnormal cardiac function compared with wild-type mice
• however, treatment with a MEK inhibitor normalizes cardiac function
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• as early as 2 weeks after birth
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• at 2 and 4 months
(J:172034)
• increased
(J:189143)
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• 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)
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• following transverse aortic constriction
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• 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)
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• at 4 months, mice exhibit decreased left ventricle pressure compared with wild-type mice
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• following transverse aortic constriction
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• 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
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• increasing in severity with age
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• at 1 year of age
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• at 1 year of age
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• at 1 year of age
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• mice exhibit facial dysmorphia compared with wild-type mice
• however, treatment with a MEK inhibitory rescues facial dysmorphia
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• blunt snout
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• as early as 2 weeks after birth
• following transverse aortic constriction
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• however, treatment with MEK inhibitor rescues cardiac hypertrophy
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• mice exhibit facial dysmorphia compared with wild-type mice
• however, treatment with a MEK inhibitory rescues facial dysmorphia
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• blunt snout
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• at weaning
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• however, mice treated with a MEK inhibitor normalizes weight
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• however, mice treated with a MEK inhibitor normalizes length
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• increasing in severity with age
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• 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
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• 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)
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• increasing in severity with age
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• myeloid progenitors are expanded compared to in wild-type mice
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• at 1 year of age
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• at 1 year of age
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• at 1 year of age
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• following transverse aortic constriction
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Noonan syndrome 5 | DOID:0060583 |
OMIM:611553 |
J:172034 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mild in female mice
• however, male mice exhibit normal body size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most die before weaning
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• mice are smaller in the postnatal period than Braf conditional knockouts
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• deficiency of terminal axonal projections of parvalbumin-positive neurons toward the lateral motor pools of the spinal cord is seen compared to controls
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• proprioceptive axons enter spinal cord normally, but few progress beyond intermediate zone
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• at P12, number of Ret+ neurons in DRG is reduced; numbers of CGRG+ neurons are increased
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most die before weaning
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• mice are smaller in the postnatal period than Braf conditional knockouts
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• deficiency of terminal axonal projections of parvalbumin-positive neurons toward the lateral motor pools of the spinal cord is seen compared to controls
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• proprioceptive axons enter spinal cord normally, but few progress beyond intermediate zone
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• at P12, number of Ret+ neurons in DRG is reduced; numbers of CGRG+ neurons are increased
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• differentiation of erythroblasts from double heterozygotes is indistinguishable from wild-type cells
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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 03/18/2025 MGI 6.24 |
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