Phenotypes Associated with This Genotype

Genotype
MGI:6480599

• Allelic Composition: Taf5^em1(IMPC)J/Taf5^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Taf5^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Taf5

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

Taf5^em1(IMPC)J/Taf5^em1(IMPC)J mice exhibit embryonic lethality, with embryos recovered at E3.5 as blastocysts but not at E7.5. Blastocysts grown in vitro hatch from the zona pellucida but form irregular outgrowths.

embryo

embryonic growth arrest ( J:348275 )

• embryos are arrested before progressing to an egg-cylinder

abnormal embryonic epiblast morphology ( J:348275 )

• NANOG (an epiblast maker) is mis-expressed (no longer confined to the epiblast)

abnormal primitive endoderm morphology ( J:279207 , J:348275 )

• blastocysts exhibit fewer SOX17+ cells (J:279207)

• number of SOX17+ cells (marking the primitive endoderm) is significantly reduced (J:348275)

abnormal inner cell mass morphology ( J:348275 )

• embryos show aberrant lineage specification within the inner cell mass at the blastocyst stage

absent inner cell mass ( J:279207 , J:348275 )

• in vitro outgrowth assays ahow no obvious ICM colony after 3 days in culture (J:279207)

• blastocysts fail to form a conspicuous ICM colony after 3 days in culture, suggesting loss of pluripotent cells during in vitro outgrowth (J:348275)

• however, trophoblast giant cells, derived from the trophectoderm, appear phenotypically normal (J:348275)

abnormal trophectoderm morphology ( J:279207 , J:348275 )

• blastocysts show aberrant NANOG expression in trophectoderm cells (J:279207)

• intensity of CDX2 (a trophectoderm marker) is significantly lower than in controls (J:348275)

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality at implantation, complete penetrance ( J:279207 , J:348275 )

• normal looking blastocysts can be recovered at E3.5 (16% versus expected 25%, n=280); no homozygous embryos are recovered at E7.5 (J:279207)

• homozygous embryos exhibit peri-implantation lethality; although morphologically normal blastocysts are present at E3.5, no embryos are recovered at E7.5 (J:348275)

reproductive system

abnormal embryo implantation ( J:279207 )

• in vitro, blastocysts hatch from the zona pellucida but form irregular outgrowths after 3 days in culture

empty decidua capsularis ( J:348275 )

• 17 of 61 (28%) decidua from heterozygous crosses are empty at E6.5 and E7.5

failure of embryo implantation ( J:348275 )

• embryos exhibit a failure to implant post-blastocyst formation