All Phenotypes Megf8<hlb611> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Megf8^hlb611/Megf8^hlb611	involves: C57BL/6J	MGI:3839105
hm2	Megf8^hlb611/Megf8^hlb611	involves: C57BL/6J * C3H/HeJ	MGI:3839106
cx3	Megf8^hlb611/Megf8^hlb611 Mosmo^em1Rroh/Mosmo^em1Rroh	involves: C57BL/6 * C57BL/6J	MGI:6782870

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

Left-right asymmetric defects in Megf8^hlb611/Megf8^hlb611 embryos

cardiovascular system

abnormal cardiac outflow tract development ( J:146805 )

• the outflow tract is shortened compared to in wild-type mice

abnormal direction of heart looping ( J:146805 )

• randomized

transposition of great arteries ( J:146805 , J:311933 )

• 100% of E13.5-E14.5 mutants exhibit transposition of the great arteries (J:311933)

anomalous pulmonary venous connection ( J:146805 )

• mice exhibit abnormal pulmonary venous connections

abnormal heart position or orientation ( J:311933 )

• 67% of E13.5-E14.5 mutants exhibit abnormal cardiac apex; mesocardiac or dextrocardia

dextrocardia ( J:146805 , J:311933 )

• in some mice (J:146805)

mesocardia ( J:146805 , J:311933 )

• in some mice (J:146805)

abnormal heart septum morphology ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit cardiac septum defects, either ventricular septal defect or atrioventricular septal defect

atrioventricular septal defect ( J:311933 )

ventricular septal defect ( J:311933 )

limbs/digits/tail

preaxial polydactyly ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit preaxial digit duplication

hematopoietic system

hematopoietic system phenotype ( J:146805 )

N	• erythropoiesis is normal

absent spleen ( J:146805 )

• in some mice

accessory spleen ( J:146805 )

• in some mice

embryo

embryo phenotype ( J:146805 )

N	• despite heterotaxia, mice exhibit normal nodal cilia rotation

abnormal direction of embryo turning ( J:146805 )

• randomized

digestive/alimentary system

right-sided stomach ( J:146805 )

• right-sided stomach

respiratory system

lung situs inversus ( J:311933 )

• 92% of E13.5-E14.5 mutants exhibit abnormal lung situs

right pulmonary isomerism ( J:146805 )

growth/size/body

heterotaxia ( J:146805 , J:311933 )

• 100% of of E13.5-E14.5 mutants exhibit heterotaxy and situs inversus (J:311933)

right-sided stomach ( J:146805 )

• right-sided stomach

abdominal situs abnormality ( J:311933 )

• 67% of E13.5-E14.5 mutants exhibit abnormal abdomen situs

lung situs inversus ( J:311933 )

• 92% of E13.5-E14.5 mutants exhibit abnormal lung situs

right pulmonary isomerism ( J:146805 )

situs inversus ( J:311933 )

• 100% of of E13.5-E14.5 mutants exhibit heterotaxy and situs inversus

immune system

absent spleen ( J:146805 )

• in some mice

accessory spleen ( J:146805 )

• in some mice

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Megf8^hlb611 mutation (0 available); any Megf8 mutation (96 available)

♀	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

Allelic Composition	Megf8^hlb611/Megf8^hlb611 Mosmo^em1Rroh/Mosmo^em1Rroh
Genetic Background	involves: C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Megf8^hlb611 mutation (0 available); any Megf8 mutation (96 available)
Mosmo^em1Rroh mutation (0 available); any Mosmo mutation (10 available)

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

cardiovascular system

double outlet right ventricle ( J:311933 )

• 20% of E13.5-E14.5 mutants exhibit double outlet right ventricle

transposition of great arteries ( J:311933 )

• 60% of E13.5-E14.5 mutants exhibit transposition of the great arteries

abnormal heart position or orientation ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit abnormal cardiac apex; mesocardia or dextrocardia

dextrocardia ( J:311933 )

mesocardia ( J:311933 )

abnormal heart septum morphology ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit cardiac septum defects, either ventricular septal defect or atrioventricular septal defect

persistent truncus arteriosus ( J:311933 )

• 20% of E13.5-E14.5 mutants exhibit persistent truncus arteriosus

atrioventricular septal defect ( J:311933 )

ventricular septal defect ( J:311933 )

growth/size/body

heterotaxia ( J:311933 )

• 100% of of E13.5-E14.5 mutants exhibit heterotaxy and situs inversus

abdominal situs abnormality ( J:311933 )

• 80% of E13.5-E14.5 mutants exhibit abnormal abdomen situs

lung situs inversus ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit abnormal lung situs

situs inversus ( J:311933 )

• 100% of of E13.5-E14.5 mutants exhibit heterotaxy and situs inversus

limbs/digits/tail

preaxial polydactyly ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit preaxial digit duplication

respiratory system

lung situs inversus ( J:311933 )

• 100% of E13.5-E14.5 mutants exhibit abnormal lung situs

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