Phenotypes Associated with This Genotype

Genotype
MGI:2660774

• Allelic Composition: Jun^{tm5.1(Junb)Wag}/Jun^{tm5.1(Junb)Wag}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:75359 )

• a few homozygotes survive to 4 days of life

perinatal lethality, incomplete penetrance ( J:75359 )

• although homozygotes are present at normal Mendelian ratios throughout fetal development, including E17.5-18.5, fewer than expected homozygotes are born (16% vs expected 25%)

neonatal lethality, incomplete penetrance ( J:75359 )

• most newborn homozygotes die within a few hrs after birth

vision/eye

failure of eyelid fusion ( J:75359 )

• at E18.5, homozygous mutant fetuses display absence of eyelid fusion

eyelids open at birth ( J:75359 )

• newborn homozygotes have open eyes

homeostasis/metabolism

cyanosis ( J:75359 )

• most homozygotes are born cyanotic and die within a few hrs of birth despite adequate chest movements

cardiovascular system

abnormal truncus arteriosus septation ( J:75359 )

• at E18.5, homozygotes display incomplete septation of the single cardiac outflow tract into the aorta and the pulmonary artery

persistent truncus arteriosus ( J:75359 )

• at E18.5, homozygotes exhibit persistent truncus arteriosus

ventricular septal defect ( J:75359 )

• at E18.5, homozygotes display incomplete formation of the interventricular septum

liver/biliary system

liver/biliary system phenotype ( J:75359 )

N • homozygotes exhibit normal liver architecture throughout embryonic development and at birth

N • in vitro, fetal hepatoblasts derived from E12.5 mutant livers display normal rates of proliferation and apoptosis relative to wild-type fetal hepatoblasts

cellular

abnormal cell proliferation ( J:75359 )

• unlike primary MEFs isolated from E12.5 Jun^tm1Wag homozygotes that show a proliferation defect due to impaired cell-cycle progression and undergo premature senescence in vitro, MEFs from Jun^tm1(Junb)Wag homozygotes do not enter premature senescence and show increased proliferation relative to Jun^tm1Wag cells, but do not proliferate as fast as wild-type cells