Phenotypes associated with this allele

• Allele Symbol: Exosc2^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:6324232
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Exosc2^em1(IMPC)J/Exosc2^em1(IMPC)J	C57BL/6NJ-Exosc2^em1(IMPC)J/Mmjax	MGI:6480451

Genotype
MGI:6480451

hm1

• Allelic Composition: Exosc2^em1(IMPC)J/Exosc2^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Exosc2^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Exosc2

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

embryo

abnormal preimplantation embryo development ( J:343201 )

• embryos progress through development to the ~E4.0 stage but have significantly reduced cell numbers, suggesting either a proliferation defect or increased cell death

failure of blastocyst to hatch from the zona pellucida ( J:343201 )

• in vitro, all embryos fail to hatch from the zona pellucida (ZP) and have collapsed no longer resembling a blastocyst and dying after 72 h of culture

small embryonic epiblast ( J:343201 )

• after 24 h KSOM culture, embryos show a marked decrease in the % of NANOG+ epiblast cells in the ICM, resulting in a 0.65:1 ratio of epiblast to PrE cells versus a 1:1 to 1.5:1 ratio in control embryos

abnormal primitive endoderm morphology ( J:343201 )

• after 24 h KSOM culture, embryos show a significant increase in the % of SOX17+ primitive endoderm (PrE) cells in the ICM, resulting in a 0.65:1 ratio of epiblast to PrE cells versus a 1:1 to 1.5:1 ratio in control embryos

abnormal inner cell mass morphology ( J:343201 )

• following assisted hatching by chemical removal of the ZP, embryos form rudimentary outgrowths with a central mass resembling ICM colony surrounded by fibroblast-like cells; however, the ICM clump is not tightly defined after 72 h of culture

• after 48 h KSOM culture, embryos show a significantly reduced total cell count with a marked decrease in the % of SOX2+ ICM cells and a concomitant increase in the % of CDX2+ trophectoderm (TE) cells

• after 24 h KSOM culture, embryos show a reduced total cell count with a marked decrease in the % of NANOG+ epiblast cells and a significant increase in the % of SOX17+ primitive endoderm (PrE) cells, indicating improper ICM lineage differentiation

abnormal trophectoderm morphology ( J:343201 )

• after 48 h KSOM culture, embryos show a significant increase in the % of CDX2+ trophectoderm (TE) cells

absent trophoblast giant cells ( J:343201 )

• following assisted hatching, embryos form abnormal outgrowths with a notable absence of trophoblast giant cells with large evident nuclei after 72 h of culture

homeostasis/metabolism

abnormal metabolism ( J:343201 )

• after 24 h KSOM culture, embryos lack the distinct 18S and 28S rRNA peaks and exhibit lower total RNA levels than control embryos; RNA Integrity Values (RIN) are significantly decreased, indicating a reduction of all RNAs

mortality/aging

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - JAX

embryonic lethality between implantation and somite formation, complete penetrance ( J:343201 )

• blastocysts are recovered in Mendelian ratios at E3.5; however, no homozygous mutant embryos are recovered at E7.5

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

reproductive system

failure of embryo implantation ( J:343201 )

• embryos form a morphologically normal blastocyst at E3.5 but mis-allocate cell lineages and fail to implant