Phenotypes associated with this allele

• Allele Symbol: Nup214^tm1Gcg
• Allele Name: targeted mutation 1, Gerard C Grosveld
• Allele ID: MGI:2441651
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nup214^tm1Gcg/Nup214^tm1Gcg	involves: 129P2/OlaHsd	MGI:3041402

Genotype
MGI:3041402

hm1

• Allelic Composition: Nup214^tm1Gcg/Nup214^tm1Gcg
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:36515 )

• homozygous null embryos died between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product in mutant hatched blastocysts

cellular

cellular phenotype ( J:36515 )

N • homozygous null embryonic stem cells were not viable

N • BrdU labeling and DNA content analysis indicated that cultured cells progressed through the S phase and became arrested in the G2 phase of their cell cycle

N • collapsed embryos showed no evidence of nuclear pore complex clustering, apoptosis, or other defects in their nuclear envelope

N • however, collapsed mutant embryos exhibited impaired NLS-mediated protein transport, as well as nuclear accumulation of polyadenylated RNA; both abnormalities coincided with depletion of maternally-derived product

embryo

embryo phenotype ( J:36515 )

N • at 3.5 dpc, homozygous null blastocysts were fully represented (25%), and appeared morphologically indistinguishable from wild-type blastocysts

abnormal blastocoele morphology ( J:36515 )

• in vitro, the blastocoel of homozygous null embryos gradually became smaller and completely collapsed during 18-24 hours of culture