Phenotypes Associated with This Genotype

Genotype
MGI:7491947

• Allelic Composition: Eif2ak2^tm1Cwe/Eif2ak2^tm1Cwe; Nipbl^{Gt(RRS564)Byg}/Nipbl⁺
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:297059 )

• viability is increased up to 63% for mutant mice homozygous for the mutation in Eif2ak2 compared to mutant mice wild-type for Eif2ak2 (~32% viability)

embryo

abnormal placenta junctional zone morphology ( J:297059 )

• increase in the junctional zone

abnormal spongiotrophoblast cell morphology ( J:297059 )

• spongiotrophoblasts have more diploid DNA content at E14.5

abnormal trophoblast glycogen cell morphology ( J:297059 )

• increased diploid DNA content at E14.5

skeleton

abnormal bone ossification ( J:297059 )

• ossification in the jawbone is improved compared to mutant mice wild-type for Eif2ak2

cellular

abnormal chromosome number ( J:297059 )

• spongiotrophoblasts and glycogen cells have more diploid DNA content at E14.5

impaired DNA repair ( J:297059 )

• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in spongiotrophoblasts

homeostasis/metabolism

impaired DNA repair ( J:297059 )

• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in spongiotrophoblasts