Phenotypes Associated with This Genotype

Genotype
MGI:5555841

• Allelic Composition: Mmp21^b2b2458Clo/Mmp21^b2b2458Clo
• Genetic Background: C57BL/6J-Mmp21^b2b2458Clo

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

Mutant 2458-002-LA exhibits heterotaxy with levocardia, right lung isomerism (3R/3L), dextrogastria, and interrupted aortic arch which is confirmed by EFIC imaging

cardiovascular system

double outlet right ventricle ( J:175213 )

double outlet right ventricle with atrioventricular septal defect ( J:175213 )

double outlet right ventricle, Taussig bing type ( J:175213 )

transposition of great arteries ( J:175213 )

d-loop transposition of the great arteries ( J:175213 )

atrioventricular septal defect ( J:175213 )

heart right ventricle hypoplasia ( J:175213 )

craniofacial

micrognathia ( J:175213 )

digestive/alimentary system

right-sided stomach ( J:175213 )

growth/size/body

micrognathia ( J:175213 )

heterotaxia ( J:175213 )

right-sided stomach ( J:175213 )

right pulmonary isomerism ( J:175213 )

• right bronchial isomerism

liver/biliary system

abnormal liver morphology ( J:175213 )

• inverted liver lobation

respiratory system

right pulmonary isomerism ( J:175213 )

• right bronchial isomerism

skeleton

micrognathia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy		DOID:0050545	OMIM:PS306955	J:175213