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

Exosc2^em1(IMPC)J/Exosc2^em1(IMPC)J mice exhibit embryonic lethality, with embryos recovered at E3.5 but no embryos at E7.5. Embryos at E3.5 appear as blastocysts but fail to hatch from the zona pellucida or form outgrowths when grown in culture.

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:279207 , J:343201 )

• blastocysts fail to hatch from the zona pellucida after 3 days in culture (J:279207)

• 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 (J:343201)

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

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality prior to organogenesis, complete penetrance ( J:279207 , J:343201 )

• although blastocysts are present in Mendelian ratios at E3.5 (21% versus expected 25%, n=57), no homozygous embryos are recovered at E7.5 (J:279207)

• however, excess resorption sites suggest that embryos elicit a decidual response in vivo (J:279207)

• blastocysts are recovered in Mendelian ratios at E3.5; however, no homozygous mutant embryos are recovered at E7.5 (J:343201)

reproductive system

failure of embryo implantation ( J:279207 , J:343201 )

• in vitro outgrowth assays show that blastocysts fail to hatch and do not form outgrowths after 3 days in culture (J:279207)

• embryos form a morphologically normal blastocyst at E3.5 but mis-allocate cell lineages and fail to implant (J:343201)