Phenotypes Associated with This Genotype

Genotype
MGI:3822143

• Allelic Composition: Tg(Myh7-Ptpn11*Q79R)11Rbns/0
• Genetic Background: FVB.Cg-Tg(Myh7-Ptpn11*Q79R)11Rbns

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

mortality/aging

premature death ( J:123963 )

• 39% of mice die by 8 months of age

cardiovascular system

dilated heart atrium ( J:123963 )

• postmortem

ventricular septal defect ( J:123963 )

• at E16.5

increased heart weight ( J:123963 )

thick ventricular wall ( J:123963 )

• at E16.5, mice exhibit ventricular noncompaction unlike in wild-type mice that persists postnatally without fibrosis

• cells in the noncompacted ventricle exhibit increased proliferation compared to in wild-type mice

abnormal interventricular groove morphology ( J:123963 )

dilated heart ventricle ( J:123963 )

• postmortem

abnormal cardiovascular system physiology ( J:123963 )

• cells in the noncompacted ventricle and located at the boundaries of the muscular ventricular septum and atrioventricular cushion tissue exhibit increased proliferation compared to in wild-type mice

decreased cardiac muscle contractility ( J:123963 )

ventricular cardiomyopathy ( J:123963 )

respiratory system

increased lung weight ( J:123963 )

homeostasis/metabolism

abnormal atrial thrombosis ( J:123963 )

• postmortem, mice display chronic left atria thrombi unlike in wild-type mice

muscle

decreased cardiac muscle contractility ( J:123963 )

ventricular cardiomyopathy ( J:123963 )

growth/size/body

increased heart weight ( J:123963 )

increased lung weight ( J:123963 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 1		DOID:0060578	OMIM:163950	J:123963