Phenotypes Associated with This Genotype

Genotype
MGI:4461321

• Allelic Composition: Tg(CAG-Map3k7*K63W)1232Mds/0; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:117108 )

• die by 11 days after birth

cardiovascular system

increased cardiac muscle glycogen level ( J:117108 )

• cardiomyocyte glycogen content is elevated in hearts at 7 days of age

abnormal heart morphology ( J:117108 )

• disruption of the annulus fibrosus

abnormal myocardial fiber morphology ( J:117108 )

• myocyte hypertrophy as indicated by increased myocyte diameter and induction of hypertrophic marker genes

abnormal ventricle papillary muscle morphology ( J:117108 )

• develop papillary muscle disorganization and fibrosis

• papillary muscle dysplasia

cardiac hypertrophy ( J:117108 )

• heart-to-body weight ratio is normal at birth but is doubled by 7 days of age

thin ventricular wall ( J:117108 )

• invariably develop ventricular wall thinning

dilated heart ventricle ( J:117108 )

• develop ventricular dilatation

abnormal cardiovascular system physiology ( J:117108 )

• exhibit severely impaired ventricular filling and regurgitant flow into the left atrium

shortened PR interval ( J:117108 )

• PR interval shortening is evident at 1 day after birth and is further shortened by 4-8 days of age, indicating shortened AV conduction time

abnormal QRS complex ( J:117108 )

• ventricular QRS complex is initially normal, but all develop a slurred widened QRS morphology with an initial delta wave by 4-8 days of age

prolonged QRS complex duration ( J:117108 )

cardiomyopathy ( J:117108 )

• glycogen storage cardiomyopathy

growth/size/body

cardiac hypertrophy ( J:117108 )

• heart-to-body weight ratio is normal at birth but is doubled by 7 days of age

periorbital edema ( J:117108 )

postnatal growth retardation ( J:117108 )

• become growth retarded within 1 week after birth

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:117108 )

• cardiomyocyte glycogen content is elevated in hearts at 7 days of age

periorbital edema ( J:117108 )

abnormal atrial thrombosis ( J:117108 )

• develop left atrial thrombi

behavior/neurological

decreased locomotor activity ( J:117108 )

• exhibit decreased activity

muscle

increased cardiac muscle glycogen level ( J:117108 )

• cardiomyocyte glycogen content is elevated in hearts at 7 days of age

abnormal myocardial fiber morphology ( J:117108 )

• myocyte hypertrophy as indicated by increased myocyte diameter and induction of hypertrophic marker genes

abnormal ventricle papillary muscle morphology ( J:117108 )

• develop papillary muscle disorganization and fibrosis

• papillary muscle dysplasia

cardiomyopathy ( J:117108 )

• glycogen storage cardiomyopathy

craniofacial

periorbital edema ( J:117108 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wolff-Parkinson-White syndrome		DOID:384	OMIM:194200	J:117108