Phenotypes Associated with This Genotype

Genotype
MGI:3839106

• Allelic Composition: Megf8^hlb611/Megf8^hlb611
• Genetic Background: involves: C57BL/6J * C3H/HeJ

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

cardiovascular system

right aortic arch ( J:146957 )

• in some mice

trabecula carnea hypoplasia ( J:146957 )

• in the small ventricle where the trabecula septomarginalis is missing

absent coronary sinus ( J:146957 )

abnormal heart and great artery attachment ( J:146957 )

• anterior positioning of the aorta

transposition of great arteries ( J:146957 )

anomalous pulmonary venous connection ( J:146957 )

• 6 of 10 mice exhibit anomalous pulmonary venous connection

right atrial isomerism ( J:146957 )

atrial septal defect ( J:146957 )

dextrocardia ( J:146957 )

• in 3 of 10 mice

mesocardia ( J:146957 )

• in 4 of 10 mice

complete atrioventricular septal defect ( J:146957 )

• with the left and right superior vena cava inserted into the anatomic left and right atria

ventricular septal defect ( J:146957 )

abnormal heart left ventricle morphology ( J:146957 )

• mice exhibit a dominant left ventricle with varied situs unlike in wild-type mice

growth/size/body

heterotaxia ( J:146957 )

• thoracic and abdominal cavity organs exhibit situs abnormalities

• however, mice exhibit normal nodal ciliary function

right atrial isomerism ( J:146957 )

right pulmonary isomerism ( J:146957 )

immune system

absent spleen ( J:146957 )

• in some mice

accessory spleen ( J:146957 )

• in some mice

renal/urinary system

renal hypoplasia ( J:146957 )

abnormal ureter morphology ( J:146957 )

digestive/alimentary system

abnormal stomach position or orientation ( J:146957 )

• the stomach can be found on the right or left side of the body unlike in wild-type mice

• stomach of one mouse exhibited bilateral symmetry unlike in wild-type mice

limbs/digits/tail

polydactyly ( J:146957 )

• on all four limbs

liver/biliary system

abnormal liver morphology ( J:146957 )

• mice have symmetrical bilobed livers unlike in wild-type mice

muscle

trabecula carnea hypoplasia ( J:146957 )

• in the small ventricle where the trabecula septomarginalis is missing

respiratory system

right pulmonary isomerism ( J:146957 )

hematopoietic system

absent spleen ( J:146957 )

• in some mice

accessory spleen ( J:146957 )

• in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:146957