Phenotypes Associated with This Genotype

Genotype
MGI:4822147

• Allelic Composition: Mks1^avc6/Mks1^avc6
• 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

complete atrioventricular septal defect ( J:163196 )

• complete penetrance with variable expressivity

• isolated complete AVSD or AVSD with posterior malaligned ventricular septal defects consistent with Tetralogy of Fallot were identified

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
tetralogy of Fallot		DOID:6419	OMIM:187500	J:163196