Phenotypes Associated with This Genotype

Genotype
MGI:3040301

• Allelic Composition: Dnmt3b^tm1Enl/Dnmt3b^tm1Enl
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:106540 )

• homozygosity is lethal between E13.5 and E16.5 showing progressive necrosis; no homozygous newborn mice are found

embryonic lethality during organogenesis, incomplete penetrance ( J:106540 )

• 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

prenatal lethality, complete penetrance ( J:58298 )

• no viable homozygotes are recovered at birth

growth/size/body

embryonic growth retardation ( J:58298 )

• embryos are growth impaired

nervous system

incomplete rostral neuropore closure ( J:58298 )

• rostral neural tube closure defects are seen in homozygous embryos

cardiovascular system

abnormal interventricular septum morphology ( J:106540 )

• in homozygotes at E14.5 and E15.5, the ventricular septum is not closed completely

hemorrhage ( J:106540 )

• 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

small liver ( J:106540 )

embryo

embryonic growth retardation ( J:58298 )

• embryos are growth impaired

incomplete rostral neuropore closure ( J:58298 )

• rostral neural tube closure defects are seen in homozygous embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immunodeficiency-centromeric instability-facial anomalies syndrome 1		DOID:0090008	OMIM:242860	J:58298