Phenotypes Associated with This Genotype

Genotype
MGI:3054645

• Allelic Composition: Pdcd1^tm1Hon/Pdcd1^tm1Hon
• Genetic Background: C.129S2(B6)-Pdcd1^tm1Hon

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

mortality/aging

premature death ( J:66979 )

• start to die around 5 weeks of age, 2/3 are dead by 30 weeks

cardiovascular system

abnormal heart morphology ( J:66979 )

enlarged heart ( J:66979 )

• massively enlarged hearts at death

decreased heart right ventricle wall thickness ( J:66979 )

• thin right venricular wall

dilated heart ventricle ( J:66979 )

• both ventricles dilated to about 2X normal diameter

cardiac fibrosis ( J:66979 )

• sporadic fibrosis and scar formation

abnormal cardiovascular system physiology ( J:66979 )

abnormal cardiac output ( J:66979 )

• impaired pump function of the heart

abnormal cardiac muscle contractility ( J:66979 )

• reduced movement of the ventricular walls and interventricular septum

immune system

increased autoantibody level ( J:66979 )

• higher titers of autoantibodies (IgG1)

• deposition of IgG and C3 complement around cardiomyocytes

liver/biliary system

enlarged liver ( J:66979 )

• varying degrees of hepatomegaly

muscle

abnormal cardiac muscle contractility ( J:66979 )

• reduced movement of the ventricular walls and interventricular septum

vision/eye

exophthalmos ( J:66979 )

• protrusion of eyeballs occurs a few weeks before death

growth/size/body

enlarged heart ( J:66979 )

• massively enlarged hearts at death

enlarged liver ( J:66979 )

• varying degrees of hepatomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:66979