Phenotypes Associated with This Genotype

Genotype
MGI:3514054

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Tg(Myh6-cre)2182Mds/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:94514 )

• most mutants die within 3 days of birth with only 4% surviving to P10 and less than 2% reaching adulthood

cardiovascular system

abnormal atrioventricular cushion morphology ( J:94514 )

• immature endocardial cushions are seen in mutant hearts at E13.5

double outlet right ventricle ( J:94514 )

overriding aortic valve ( J:94514 )

abnormal atrioventricular valve morphology ( J:94514 )

• hyperplastic atrioventicular valves are seen in all mutants and these valves are thickened in neonates

perimembraneous ventricular septal defect ( J:94514 )

• 90% of mutants have membranous ventricular septal defects and these defects can be detected as early as E10.5

abnormal interventricular septum muscular part morphology ( J:94514 )

• the muscular ventricular septum is thickened and disorganized

decreased heart left ventricle size ( J:94514 )

• at E11.5 and E13.5 the left ventricle is reduced in size, however the size is normal at birth

homeostasis/metabolism

cyanosis ( J:94514 )

• most mutants become cyanotic within 3 days of birth