Phenotypes Associated with This Genotype

Genotype
MGI:4822145

• Allelic Composition: Dnah11^avc4/Dnah11^avc4
• Genetic Background: involves: C57BL/6J * FVB/N

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

mortality/aging

perinatal lethality ( J:163196 )

cardiovascular system

pulmonary artery hypoplasia ( J:163196 )

• 2 of 25 mice exhibit hypoplastic pulmonary artery

interrupted aortic arch ( J:163196 )

• 3 of 25 mice exhibit interrupted aortic arch

ostium primum atrial septal defect ( J:163196 )

• some mutant mice develop atrial septal defects of the primum type

atrioventricular septal defect ( J:163196 )

• all mice exhibit septal defects with expressivity varying from primum atrial septal defect to complete AVSD

complete atrioventricular septal defect ( J:163196 )

• some mutant mice develop atrioventricular septal defects of the complete common atrioventricular canal type

pulmonary valve stenosis ( J:163196 )

decreased heart right ventricle size ( J:163196 )

• approximately half of affected mutants exhibit unbalanced hypoplastic right ventricle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:163196