Phenotypes Associated with This Genotype

Genotype
MGI:5774971

• Allelic Composition: Ddx3x^tm1.2Lyou/Ddx3x⁺
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

mortality/aging ( J:231798 )

♀N • females with a paternally inherited mutant allele are viable

lethality throughout fetal growth and development, incomplete penetrance ( J:231798 )

♀ • at E16.5-E18.5 the proportion of female embryos with a maternally inherited mutant allele was dramatically reduced to 5/64

♀ • females were readily detected at E13.5 and E14.5

preweaning lethality, complete penetrance ( J:231798 )

♀ • by weaning no females with a maternally inherited mutant allele were detected

embryo

abnormal placenta vasculature ( J:231798 )

♀ • at E9.5 fetal blood vessels remain restricted to the chorioallantoic plate regions in females with a maternally inherited mutant allele unlike in wild-type littermate controls

abnormal placental labyrinth vasculature morphology ( J:231798 )

♀ • vascular network and trophoblast cells in the labyrinth layer are more loosely organized in females with a maternally inherited mutant allele

embryonic growth retardation ( J:231798 )

♀ • slightly slower growth in females with a maternally inherited mutant allele at E12.5

abnormal trophoblast giant cell morphology ( J:231798 )

♀ • decreased in size at E9.5 in females with a maternally inherited mutant allele

decreased trophoblast giant cell number ( J:231798 )

♀ • at E9.5 in females with a maternally inherited mutant allele

decreased spongiotrophoblast cell number ( J:231798 )

♀ • decrease in the number of spongiotrophoblast-specific protein alpha-positive cells in the spongiotrophoblast cell layer in females with a maternally inherited mutant allele at E12.5, E14.5 and E16.5

decreased spongiotrophoblast size ( J:231798 )

♀ • in females with a maternally inherited mutant allele at E9.5, E12.5 and E14.5

small placenta ( J:231798 )

♀ • smaller in females with a maternally inherited mutant allele at E12.5

cardiovascular system

abnormal placenta vasculature ( J:231798 )

♀ • at E9.5 fetal blood vessels remain restricted to the chorioallantoic plate regions in females with a maternally inherited mutant allele unlike in wild-type littermate controls

abnormal placental labyrinth vasculature morphology ( J:231798 )

♀ • vascular network and trophoblast cells in the labyrinth layer are more loosely organized in females with a maternally inherited mutant allele

ventricular septal defect ( J:231798 )

♀ • seen at E14.5 and E16.5 in all females with a maternally inherited mutant allele

hemorrhage ( J:231798 )

♀ • peripheral hemorrhage in embryos with small placentas at E14.5 and E16.5

homeostasis/metabolism

edema ( J:231798 )

♀ • in embryos with small placentas at E14.5 and E16.5

growth/size/body

embryonic growth retardation ( J:231798 )

♀ • slightly slower growth in females with a maternally inherited mutant allele at E12.5