Phenotypes associated with this allele

• Allele Symbol: Kansl3^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:6258443
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kansl3^em1(IMPC)J/Kansl3^em1(IMPC)J	C57BL/6NJ-Kansl3^em1(IMPC)J/Mmjax	MGI:6480488

Genotype
MGI:6480488

hm1

• Allelic Composition: Kansl3^em1(IMPC)J/Kansl3^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Kansl3^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Kansl3

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

Kansl3^em1(IMPC)J/Kansl3^em1(IMPC)J mice exhibit embryonic lethality, with embryos recovered at E3.5 as blastocysts but not at E7.5. Blastocysts grown in vitro fail to hatch from the zona pellucida and are dead after 72 hours in vitro, never forming outgrowths.

cellular

abnormal epigenetic regulation of gene expression ( J:350482 )

• homozygous embryos show a significant reduction in H4K5ac, but no significant changes in H4k8ac, H4k12ac or H4k16ac, relative to control embryos

embryo

failure of blastocyst to hatch from the zona pellucida ( J:279207 , J:350482 )

• in vitro outgrowth assays show that blastocysts fail to hatch from the zona pellucida after 3 days in culture (J:279207)

• in vitro outgrowth assays show that blastocysts fail to hatch out of the zona pellucida after 3 days in culture and eventually die (J:350482)

embryonic growth arrest ( J:350482 )

• in vivo, blastocysts appear morphologically normal but embryos fail to progress beyond E3.5

abnormal embryonic epiblast morphology ( J:350482 )

• immunofluorescence assays show a significant reduction in the % of NANOG-positive epiblast cells

abnormal primitive endoderm morphology ( J:350482 )

• immunofluorescence assays show a significant reduction in the % of SOX17-positive primitive endoderm cells

abnormal inner cell mass morphology ( J:350482 )

• after assisted hatching by removal of the zona pellucida, all in vitro outgrowths exhibit fewer and more dispersed cells with no apparent ICM colony; fewer POU5F1/OCT4-positive ICM cells are detected, suggesting defects in the ICM lineage

• at E3.5, immunofluorescence assays show a significant reduction in both the absolute number and the % of SOX2-positive ICM cells, with no change in total cell number relative to control blastocysts; SOX2 intensity is reduced, further suggesting ICM specific defects

• however, no TUNEL-positive cells are detected and no increase in the % of PH3-positive cells is observed, suggesting absence of cell death and cell cycle arrest

abnormal trophectoderm morphology ( J:350482 )

• after assisted hatching by removal of the zona pellucida, all in vitro outgrowths exhibit very few cells with obvious trophectoderm morphology

• fewer and more dispersed CDX2high expressing cells surround the POU5F1/OCT4-positive ICM cells, suggesting defects in the trophectoderm lineage

• at E3.5, immunofluorescence assays show a significant increase in the % of CDX2-positive trophectoderm cells but no change in the absolute number of CDX2-positive cells or in CDX2 intensity

decreased trophoblast giant cell number ( J:350482 )

• after assisted hatching by removal of the zona pellucida, all in vitro outgrowths exhibit very few cells with obvious giant cell morphology

• some giantnucleated cells are present but express low levels of CDX2 (a trophectoderm marker)

mortality/aging

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality before implantation, complete penetrance ( J:279207 , J:350482 )

• homozygous embryos are recovered at E3.5 and appear as blastocysts; no homozygous embryos or excess resorption sites are observed at E7.5 (J:279207)

• homozygous embryos are present in expected Mendelian ratios at E3.5 but not recovered at E7.5, indicating lethality at periimplantation stages (J:350482)

reproductive system

failure of embryo implantation ( J:279207 , J:350482 )

• in vitro, blastocysts fail to hatch and are dead after 3 days in culture, never forming outgrowths (J:279207)

• homozygous embryos show failure of in vivo implantation (J:350482)