Phenotypes for Ep300 MGI:3512273 MGI Mouse

• homozygotes appear abnormal as early as E8.5 and die between E9.0 and E11.5

• at E10.5, 50% of homozygotes show either absence of heart beating or signs of reabsorption

• at E10.5, ~20% of homozygotes display a poorly vascularized yolk sac

absent trabeculae carneae ( J:47301 )

• at E10.5, homozygotes display significantly reduced ventricular trabeculation relative to wild-type

enlarged heart ( J:47301 )

• at E10.5, ~20% of homozygotes have an enlarged heart cavity

pericardial effusion ( J:47301 )

• at E10.5, homozygotes with an enlarged heart display pericardial effusion

• at E10.5, the heart contractions in mutant embryos appear to be weaker and less extensive than in wild-type embryos

abnormal cell physiology ( J:47301 )

• mutant MEFs display impaired retinoic acid receptor activity; in contrast, cAMP-dependent signaling appears unaffected

decreased fibroblast proliferation ( J:47301 )

• in addition to mutant embryos, isolated MEFs show a proliferation defect, growing much slower and for fewer generations relative to wild-type

• MEFs derived from 129/Sv inbred embryos exhibit more severe proliferative defects than 129/Sv x C57BL/6 MEFs

• unlike heterozygous and wild-type cells, homozygous mutant MEFs stop dividing after 3 to 4 cell generations

• at E10.5, ~20% of homozygotes display a poorly vascularized yolk sac

incomplete embryo turning ( J:47301 )

• at E10.5, the most severe but still viable homozygotes display incomplete embryo turning

embryonic growth retardation ( J:47301 )

• at E10.5, the most severe but still viable homozygotes exhibit a developmental arrest at ~E8.5-E9.0

decreased embryo size ( J:47301 )

• at E10.5, homozygotes are much smaller than wild-type embryos and appear developmentally retarded

incomplete somite formation ( J:47301 )

• at E10.5, the most severe but still viable homozygotes contain only 12-16 somites

• at this stage, mutant somites appear disorganized relative to wild-type