Mouse Genome Informatics
hm
    Dnmt3btm1Enl/Dnmt3btm1Enl
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• no viable homozygotes are recovered at birth
• between E11.5 and E13.5, homozygous embryos are somewhat underrepresented from expected (14% actual vs 25% expected); most live embryos recovered at E13.5 exhibit subcutaneous edema and liver atrophy
• homozygosity is lethal between E13.5 and E16.5 showing progressive necrosis; no homozygous newborn mice are found

growth/size
• embryos are growth impaired

nervous system
• rostral neural tube closure defects are seen in homozygous embryos

cardiovascular system
• in homozygotes at E14.5 and E15.5, the ventricular septum is not closed completely
• some embryos show ectopic hemorrhage in the head region at E13.5
• hemorrhaging in the middle of the dorsal root ganglia and in the limb region is also observed (data not shown)

liver/biliary system

embryogenesis
• rostral neural tube closure defects are seen in homozygous embryos
• embryos are growth impaired

Mouse Models of Human Disease
OMIM IDRef(s)
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1; ICF1 242860 J:58298