Phenotypes Associated with This Genotype

Genotype
MGI:5445966

• Allelic Composition: Raf1^tm2.1Ara/Raf1^tm2.1Ara
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr

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

mortality/aging

premature death ( J:189143 )

• 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

increased myocardial fiber size ( J:189143 )

• neonatal cardiomyocytes exhibit increased surface area compared with wild-type cells

enlarged heart ( J:189143 )

• in mice with normal growth

increased heart weight ( J:189143 )

• in mice with normal growth

cardiac hypertrophy ( J:189143 )

• concentric cardiac hypertrophy with enhanced cardiac function

• severity of cardiac phenotype correlates with Mek/Erk activation

abnormal heart left ventricle morphology ( J:189143 )

• increased left ventricular diastolic posterior wall thickness

• reduced left ventricular internal end-systolic dimension

• however, left ventricular internal end-diastolic dimension is normal

increased cardiac output ( J:189143 )

increased cardiac stroke volume ( J:189143 )

increased cardiac muscle contractility ( J:189143 )

• increased fractional shortening and ejection fraction

growth/size/body

enlarged heart ( J:189143 )

• in mice with normal growth

increased heart weight ( J:189143 )

• in mice with normal growth

cardiac hypertrophy ( J:189143 )

• concentric cardiac hypertrophy with enhanced cardiac function

• severity of cardiac phenotype correlates with Mek/Erk activation

decreased body weight ( J:189143 )

• in one-third of mice

decreased body length ( J:189143 )

• in one-third of mice

craniofacial

abnormal cranium size ( J:189143 )

• 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

decreased cranium width ( J:189143 )

• in mice with severe growth defects

• however, mice with normal growth exhibit normal facial morphology

behavior/neurological

tremors ( J:189143 )

• in surviving mice with severe growth defects

hunched posture ( J:189143 )

• in surviving mice with severe growth defects

integument

ruffled hair ( J:189143 )

• in surviving mice with severe growth defects

hematopoietic system

hematopoietic system phenotype ( J:189143 )

N • mice do not exhibit splenomegaly nor overt hematological defects

muscle

increased myocardial fiber size ( J:189143 )

• neonatal cardiomyocytes exhibit increased surface area compared with wild-type cells

increased cardiac muscle contractility ( J:189143 )

• increased fractional shortening and ejection fraction

skeleton

abnormal cranium size ( J:189143 )

• 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

decreased cranium width ( J:189143 )

• in mice with severe growth defects

• however, mice with normal growth exhibit normal facial morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 5		DOID:0060583	OMIM:611553	J:189143