Phenotypes Associated with This Genotype

Genotype
MGI:4834658

• Allelic Composition: Ccn1^tm1Lfl/Ccn1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

cardiovascular system

abnormal mitral valve morphology ( J:126490 )

• at E14.5, some mutant mice show dysplastic mitral valves (3/27)

ostium primum atrial septal defect ( J:126490 )

• 20% of adult mutant mice (5/25) show persistent ASD, where the septum primum failed to fuse completely with the cushion tissue and the ostium primum remained

• septum secundum formation was normal, but the postnatal fusion of the two septa was precluded by the defective septum primum; consequently, blood cells were trapped between the atria and the hemodynamic flow was in disarray

patent cardiac foramen ovale ( J:126490 )

• the foramen ovale remained patent in affected adult mice

complete atrioventricular septal defect ( J:126490 )

• at E14.5, some mutant mice show complete AVSD (4/27)

abnormal interventricular septum morphology ( J:126490 )

• while a VSD in mutant hearts was apparent at E13.5 and E14.5, it is not seen after E15.5, indicating that interventricular septum formation is delayed in mutant embryos but not persistently impaired

ventricular septal defect ( J:126490 )

• at E14.5, some mutant mice show VSD (11/27), but this is no longer apparent at E15.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrial heart septal defect 1		DOID:0110106	OMIM:108800	J:126490