Phenotypes Associated with This Genotype

Genotype
MGI:4822143

• Allelic Composition: avc2/avc2
• 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

ostium primum atrial septal defect ( J:163196 )

• each mutant mouse displayed an incomplete AVSD (an atrial septal defect of the primum type)

• Background Sensitivity: the phenotype is incompletely penetrant was lost after repeated outcrossing to FVB; however, the phenotype was re-established after a two-generation backcross to a C57BL/6-A/J chromosome 15 chromosome substitution strain (C57BL/6J-Chr15A/NaJ)

limbs/digits/tail

preaxial polydactyly ( J:163196 )

• observed on all limbs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrial heart septal defect 1		DOID:0110106	OMIM:108800	J:163196