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Phenotypes Associated with This Genotype
Genotype
MGI:5445966
Allelic
Composition
Raf1tm2.1Ara/Raf1tm2.1Ara
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6NCr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Raf1tm2.1Ara mutation (0 available); any Raf1 mutation (94 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice with severe growth defects die shortly after weaning
• remaining mice with severe growth defects die between 4 and 8 months
• however, mice with normal growth exhibit normal survival

cardiovascular system
• neonatal cardiomyocytes exhibit increased surface area compared with wild-type cells
• in mice with normal growth
• in mice with normal growth
• concentric cardiac hypertrophy with enhanced cardiac function
• severity of cardiac phenotype correlates with Mek/Erk activation
• increased left ventricular diastolic posterior wall thickness
• reduced left ventricular internal end-systolic dimension
• however, left ventricular internal end-diastolic dimension is normal
• increased fractional shortening and ejection fraction

growth/size/body
• in one-third of mice
• in one-third of mice

craniofacial
• mice with severe growth defects exhibit reduced skull length, slight decrease in width and triangular facial appearance compared with wild-type mice
• however, mice with normal growth exhibit normal facial morphology
• in mice with severe growth defects
• however, mice with normal growth exhibit normal facial morphology

behavior/neurological
• in surviving mice with severe growth defects
• in surviving mice with severe growth defects

integument
• in surviving mice with severe growth defects

hematopoietic system
N
• mice do not exhibit splenomegaly nor overt hematological defects

muscle
• neonatal cardiomyocytes exhibit increased surface area compared with wild-type cells
• increased fractional shortening and ejection fraction

skeleton
• mice with severe growth defects exhibit reduced skull length, slight decrease in width and triangular facial appearance compared with wild-type mice
• however, mice with normal growth exhibit normal facial morphology
• in mice with severe growth defects
• however, mice with normal growth exhibit normal facial morphology

Mouse Models of Human Disease
OMIM ID Ref(s)
Noonan Syndrome 5; NS5 611553 J:189143


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory