Phenotypes associated with this allele

• Allele Symbol: Mrtfb^{Gt(RRJ478)Byg}
• Allele Name: gene trap RRJ478, BayGenomics
• Allele ID: MGI:3587937
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mrtfb^Gt(RRJ478)Byg/Mrtfb^Gt(RRJ478)Byg	involves: 129P2/OlaHsd	MGI:4456388
hm2	Mrtfb^Gt(RRJ478)Byg/Mrtfb^Gt(RRJ478)Byg	involves: 129P2/OlaHsd * C57BL/6J	MGI:3697615
cn3	Mrtfb^Gt(RRJ478)Byg/Mrtfb^Gt(RRJ478)Byg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6J * CBA/J	MGI:3697616

Genotype
MGI:4456388

hm1

• Allelic Composition: Mrtfb^{Gt(RRJ478)Byg}/Mrtfb^{Gt(RRJ478)Byg}
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:160964 )

• numbers of homozygotes severely reduced at birth

• homozygous embryo numbers more or less normal at E16.5

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:160964 )

• several different abnormal arch artery patterns were observed in mutant embryos

• generally only one or two right- and left-sided aortic arch arteries were observed

• either the fourth and/or the sixth arch artery was occasionally absent

interrupted aortic arch ( J:160964 )

• 2 of 16 with an interrupted aortic arch

right aortic arch ( J:160964 )

• observed in one of 16 embryos

impaired cardiac neural crest cell differentiation ( J:160964 )

• blocked smooth muscle cell differentiation in cardiac neural crest cells

persistent truncus arteriosus ( J:160964 )

• in 7 of 16 embryos

double outlet right ventricle ( J:160964 )

• 50% with double outlet from the right ventricle

absent aorticopulmonary septum ( J:160964 )

• absent or severely diminished at E11.5

ventricular septal defect ( J:160964 )

• large ventricular septal defects were observed in all mutant embryos

congestive heart failure ( J:160964 )

• frequently observed

craniofacial

abnormal pharyngeal arch artery morphology ( J:160964 )

• several different abnormal arch artery patterns were observed in mutant embryos

• generally only one or two right- and left-sided aortic arch arteries were observed

• either the fourth and/or the sixth arch artery was occasionally absent

embryo

abnormal pharyngeal arch artery morphology ( J:160964 )

• several different abnormal arch artery patterns were observed in mutant embryos

• generally only one or two right- and left-sided aortic arch arteries were observed

• either the fourth and/or the sixth arch artery was occasionally absent

impaired cardiac neural crest cell differentiation ( J:160964 )

• blocked smooth muscle cell differentiation in cardiac neural crest cells

homeostasis/metabolism

edema ( J:160964 )

• 6 of 16 embryos are edematous at E16.5

nervous system

impaired cardiac neural crest cell differentiation ( J:160964 )

• blocked smooth muscle cell differentiation in cardiac neural crest cells

cellular

impaired cardiac neural crest cell differentiation ( J:160964 )

• blocked smooth muscle cell differentiation in cardiac neural crest cells

Genotype
MGI:3697615

hm2

• Allelic Composition: Mrtfb^{Gt(RRJ478)Byg}/Mrtfb^{Gt(RRJ478)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:117226 )

• die in late gestation, primarily between E15.5 and E17.5, although a small number survive weaning and appear grossly normal

embryo

abnormal vitelline vein morphology ( J:117226 )

• 40% of unresorbed E15.5-E16.5 embryos have aneurismal dilation of the vitelline veins

abnormal visceral yolk sac morphology ( J:117226 )

• yolk sacks have decreased smooth muscle alpha-actin expression and reduced cellularity

pale yolk sac ( J:117226 )

cardiovascular system

abnormal vitelline vein morphology ( J:117226 )

• 40% of unresorbed E15.5-E16.5 embryos have aneurismal dilation of the vitelline veins

abnormal heart morphology ( J:117226 )

• incomplete penetrance of cardiac and aortic arch defects

• however, no evidence of heart failure, peripheral edema, pericardial effusion or loss of smooth muscle

thin myocardium ( J:117226 )

• 2 of 15 embryos have a thin myocardium

persistent truncus arteriosus ( J:117226 )

• 1 of 15 embryos has truncus arteriosus

ventricular septal defect ( J:117226 )

• 5 of 15 embryos have a ventricular septal defect

liver hemorrhage ( J:117226 )

• hemorrhage within the liver parenchyma

liver/biliary system

liver hemorrhage ( J:117226 )

• hemorrhage within the liver parenchyma

abnormal liver morphology ( J:117226 )

• expression of smooth muscle markers is decreased in the large central veins and the sinusoids of the liver parenchyma

muscle

thin myocardium ( J:117226 )

• 2 of 15 embryos have a thin myocardium

Genotype
MGI:3697616

cn3

• Allelic Composition: Mrtfb^{Gt(RRJ478)Byg}/Mrtfb^{Gt(RRJ478)Byg}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:117226 )

• fewer than expected numbers of newborns are seen (11.5% instead of the expected 25%), indicating partial lethality, however lethality is lower than in single Mkl2 homozygotes