Phenotypes associated with this allele

• Allele Symbol: Mrtfb^tm1Eno
• Allele Name: targeted mutation 1, Eric N Olson
• Allele ID: MGI:3608959
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mrtfb^tm1Eno/Mrtfb^tm1Eno	involves: 129S/SvEv * C57BL/6	MGI:3610554

Genotype
MGI:3610554

hm1

• Allelic Composition: Mrtfb^tm1Eno/Mrtfb^tm1Eno
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

Branchial arch artery abnormalities in Mrtfb^tm1Eno/Mrtfb^tm1Eno embryos

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:102475 )

• complete lethality between E13.5 and 14.5 with widespread hemorrhaging

• at E12.5 and earlier, mutants appeared normal and were present approximately at Mendelian ratios

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:102475 )

• other branchial arch artery defects were found by histological examination of E13.5 mutant embryos

abnormal fourth pharyngeal arch artery morphology ( J:102475 )

• in E10.5 mutant embryo, fusion between fourth and sixth arteries was detected

abnormal sixth pharyngeal arch artery morphology ( J:102475 )

• in E10.5 mutant embryo, fusion between fourth and sixth arteries was detected

• in E11.5 mutant embryo, both sixth branchial arch arteries were hypoplastic and narrow

vascular smooth muscle hypoplasia ( J:102475 )

• reduction in smooth muscle differentiation within the walls of the third, forth, and sixth branchial arch arteries of mutant embryos at E11.5

• the dorsal aorta or heart of mutant embryos were unaffected

thin myocardium ( J:102475 )

• at E12.5 and E13.5

abnormal heart and great vessel attachment ( J:102475 )

• mutant embryos displayed abnormalities in the origin of the great vessels at E12.5 and E13.5

double outlet right ventricle ( J:102475 )

• double outlet right ventricle was observed in all mutant embryos

perimembraneous ventricular septal defect ( J:102475 )

• high ventricular septal defects at E12.5 and E13.5

pericardial edema ( J:102475 )

• in mutant embryos at E13.5 and E14.5

hemorrhage ( J:102475 )

• widespread hemorrhaging was seen at E13.5 and E14.5

homeostasis/metabolism

pericardial edema ( J:102475 )

• in mutant embryos at E13.5 and E14.5

muscle

vascular smooth muscle hypoplasia ( J:102475 )

• reduction in smooth muscle differentiation within the walls of the third, forth, and sixth branchial arch arteries of mutant embryos at E11.5

• the dorsal aorta or heart of mutant embryos were unaffected

thin myocardium ( J:102475 )

• at E12.5 and E13.5

craniofacial

abnormal pharyngeal arch artery morphology ( J:102475 )

• other branchial arch artery defects were found by histological examination of E13.5 mutant embryos

abnormal fourth pharyngeal arch artery morphology ( J:102475 )

• in E10.5 mutant embryo, fusion between fourth and sixth arteries was detected

abnormal sixth pharyngeal arch artery morphology ( J:102475 )

• in E10.5 mutant embryo, fusion between fourth and sixth arteries was detected

• in E11.5 mutant embryo, both sixth branchial arch arteries were hypoplastic and narrow

embryo

abnormal pharyngeal arch artery morphology ( J:102475 )

• other branchial arch artery defects were found by histological examination of E13.5 mutant embryos

abnormal fourth pharyngeal arch artery morphology ( J:102475 )

• in E10.5 mutant embryo, fusion between fourth and sixth arteries was detected

abnormal sixth pharyngeal arch artery morphology ( J:102475 )

• in E10.5 mutant embryo, fusion between fourth and sixth arteries was detected

• in E11.5 mutant embryo, both sixth branchial arch arteries were hypoplastic and narrow