Phenotypes associated with this allele

• Allele Symbol: Exoc3l4^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:6294137
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Exoc3l4^em1(IMPC)J/Exoc3l4^em1(IMPC)J	C57BL/6NJ-Exoc3l4^em1(IMPC)J/Mmjax	MGI:6492832

Genotype
MGI:6492832

hm1

• Allelic Composition: Exoc3l4^em1(IMPC)J/Exoc3l4^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Exoc3l4^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Exoc3l4

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

By E10.5 most Exoc3l4^em1(IMPC)J/Exoc3l4^em1(IMPC)J (Exoc3l4-/-) embryos are smaller, some are developmentally delayed, about half have abnormal hearts with some also having pericardial edema while others have cardiac edema. Embryos start dying around E11.5.

cardiovascular system

abnormal placental labyrinth vasculature morphology ( J:374598 )

• at E9.5 and E10.5, placentas show an abnormally large accumulation of maternal blood adjacent to the labyrinth trophoblasts

abnormal heart morphology ( J:374598 )

• by E10.5, nearly half of homozygous embryos show abnormal hearts, some accompanied by cardiac or pericardial edema

pericardial edema ( J:374598 )

• by E10.5, some homozygous embryos exhibit pericardial edema

embryo

embryonic growth retardation ( J:374598 )

• only a minority of homozygous embryos are developmentally delayed by E10.5

• however, all three germ layers are present at E10.5

decreased embryo size ( J:374598 )

• by E10.5, most homozygous embryos are smaller than control littermates

• however, most are normal at E9.5

abnormal placenta labyrinth morphology ( J:374598 )

• at E10.5, placentas exhibit multiple labyrinth zone defects

abnormal placental labyrinth vasculature morphology ( J:374598 )

• at E9.5 and E10.5, placentas show an abnormally large accumulation of maternal blood adjacent to the labyrinth trophoblasts

abnormal trophoblast layer morphology ( J:374598 )

• at E10.5, the Tfeb+ labyrinth trophoblast layer is markedly reduced

abnormal placenta development ( J:374598 )

• at E10.5, Gcm1+ chorioallantoic branching is impaired

• by E11.5, placental defects are more severe than at E10.5

• however, placental development is largely normal at E9.5

growth/size/body

embryonic growth retardation ( J:374598 )

• only a minority of homozygous embryos are developmentally delayed by E10.5

• however, all three germ layers are present at E10.5

decreased embryo size ( J:374598 )

• by E10.5, most homozygous embryos are smaller than control littermates

• however, most are normal at E9.5

homeostasis/metabolism

pericardial edema ( J:374598 )

• by E10.5, some homozygous embryos exhibit pericardial edema

cardiac edema ( J:374598 )

• by E10.5, some homozygous embryos exhibit cardiac edema

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality during organogenesis, complete penetrance ( J:374598 )

• homozygous embryos are present in Mendelian ratios at E9.5 and E10.5; all homozygous embryos are dying or undergoing resorption by E11.5