Phenotypes Associated with This Genotype

Genotype
MGI:4456388

• 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