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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dis3lem2Adki
endonuclease-mediated mutation 2, Andrzej Dziembowski
MGI:8239626
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dis3lem2Adki/Dis3lem2Adki involves: C57BL/6JTar * CBA/WTar MGI:8240331
cx2
Dis3lem2Adki/Dis3lem2Adki
Gt(ROSA)26Sorem1(DIS3L)Adki/Gt(ROSA)26Sor+
involves: C57BL/6JTar * CBA/WTar MGI:8276781


Genotype
MGI:8240331
hm1
Allelic
Composition
Dis3lem2Adki/Dis3lem2Adki
Genetic
Background
involves: C57BL/6JTar * CBA/WTar
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dis3lem2Adki mutation (0 available); any Dis3l mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes are born from heterozygous intercrosses; only 14.29% and 16.67% homozygous embryos are identified at E6.5 and E7.5, respectively; all 6 identified E7.5 homozygous embryos are highly degenerated and nonviable
• supplementing extraembryonic tissue with functional DIS3L via construction of chimeric embryos does not rescue the embryonic lethality

embryo
• at E7.5, all 6 identified homozygous embryos are highly degenerated and nonviable
• however, overall preimplantation development is normal; blastocysts show no significant changes in mean total cell count or percentage ratio of all three cell lineages (trophectoderm, epiblast, and primitive endoderm) relative to wild-type controls
• at E6.5, two of 3 identified homozygous embryos are smaller and deformed relative to wild-type controls
• at E6.5, two of 3 identified homozygous embryos are smaller than wild-type controls

growth/size/body
• at E6.5, two of 3 identified homozygous embryos are smaller than wild-type controls

homeostasis/metabolism
• preimpantation embryos show a decrease in global protein synthesis -- possibly the effect of translation stress response pathways triggered by accumulation of aberrant transcripts
• however, preimplantation embryos are still able to produce functional embryonic stem (ES) cells from the inner cell mass, albeit with reduced efficiency; RNA-seq analysis shows no major changes at the transcriptome level for both ES cells and blastocysts

cellular
• preimpantation embryos show a decrease in global protein synthesis -- possibly the effect of translation stress response pathways triggered by accumulation of aberrant transcripts
• however, preimplantation embryos are still able to produce functional embryonic stem (ES) cells from the inner cell mass, albeit with reduced efficiency; RNA-seq analysis shows no major changes at the transcriptome level for both ES cells and blastocysts




Genotype
MGI:8276781
cx2
Allelic
Composition
Dis3lem2Adki/Dis3lem2Adki
Gt(ROSA)26Sorem1(DIS3L)Adki/Gt(ROSA)26Sor+
Genetic
Background
involves: C57BL/6JTar * CBA/WTar
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dis3lem2Adki mutation (0 available); any Dis3l mutation (49 available)
Gt(ROSA)26Sorem1(DIS3L)Adki mutation (0 available); any Gt(ROSA)26Sor mutation (1062 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• at 5 weeks of age, the only mouse born shows no apparent developmental defects and is morphologically indistinguishable from wild-type littermates; Western blot analysis confirmed expression of the full-length human DIS3L protein product, indicating successful rescue of the embryonic lethal phenotype





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last database update
01/06/2026
MGI 6.24
The Jackson Laboratory