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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mosmoem1Rroh
endonuclease-mediated mutation 1, Rajat Rohatgi
MGI:6782393
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mosmoem1Rroh/Mosmoem1Rroh C57BL/6-Mosmoem1Rroh MGI:6782849
cx2
 		Megf8hlb611/Megf8hlb611
Mosmoem1Rroh/Mosmoem1Rroh 		involves: C57BL/6 * C57BL/6J MGI:6782870


Genotype
MGI:6782849
hm1
Allelic
Composition		 Mosmoem1Rroh/Mosmoem1Rroh
Genetic
Background		 C57BL/6-Mosmoem1Rroh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mosmoem1Rroh mutation (0 available); any Mosmo mutation (10 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:311933 )
• no live pups are recovered and most mutants die by E14.5, most likely due to complex structural heart defects
• embryos exposed to vismodegib from E7.25/E8.5 to E11.25 in utero show a 16-fold higher survival to E14.5 than controls

growth/size/body
heterotaxia ( J:311933 )
• all embryos exhibit heterotaxy, with abnormalities in lung lobation and abnormal left-right positioning of multiple visceral organs, including the heart, stomach, spleen and pancreas
abdominal situs abnormality ( J:311933 )
• 27% 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
right pulmonary isomerism ( J:311933 )
• most embryos have either complete or partial right pulmonary isomerism: a duplication of the right lung morphology on the left side
situs inversus ( J:311933 )
• 100% of of E13.5-E14.5 mutants exhibit heterotaxy and situs inversus

cardiovascular system
double outlet right ventricle ( J:311933 )
• 9% of E13.5-E14.5 mutants exhibit double outlet right ventricle
• embryos exposed to vismodegib from E7.25/E8.5 to E11.25 in utero show improved congenital heart defect phenotypes; instead of the predominant transposition of great arteries, the phenotype is shifted to the less severe double outlet right ventricle, and there is a reduction in the incidence of mesocardiac, dextrocardia and right aortic arch
transposition of great arteries ( J:311933 )
• 73% of E13.5-E14.5 mutants exhibit transposition of the great arteries
abnormal heart position or orientation ( J:311933 )
• 73% of E13.5-E14.5 mutants exhibit abnormal cardiac apex; mesocardiac or dextrocardia
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 )
• 18% of E13.5-E14.5 mutants exhibit persistent truncus arteriosus
• embryos exposed to vismodegib from E7.25/E8.5 to E11.25 in utero do not develop persistent truncus arteriosus

limbs/digits/tail
preaxial polydactyly ( J:311933 )
• 100% of E13.5-E14.5 mutants exhibit preaxial polydactyly in both forelimbs and hindlimbs
• treatment of pregnant mice with a small-molecule Smoothened antagonist vismodegib for about 2 days often corrects the polydactyly, resulting in embryos with normal limbs with five digits
short tibia ( J:311933 )
• truncated tibia

nervous system
exencephaly ( J:311933 )
• a subset of embryos exhibit exencephaly

respiratory system
lung situs inversus ( J:311933 )
• 100% of E13.5-E14.5 mutants exhibit abnormal lung situs
right pulmonary isomerism ( J:311933 )
• most embryos have either complete or partial right pulmonary isomerism: a duplication of the right lung morphology on the left side

skeleton
short tibia ( J:311933 )
• truncated tibia




Genotype
MGI:6782870
cx2
Allelic
Composition		 Megf8hlb611/Megf8hlb611
Mosmoem1Rroh/Mosmoem1Rroh
Genetic
Background		 involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Megf8hlb611 mutation (0 available); any Megf8 mutation (96 available)
Mosmoem1Rroh 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
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

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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05/07/2024
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