Phenotypes Associated with This Genotype

Genotype
MGI:6118197

• Allelic Composition: Apela^tm1.2Brre/Apela^tm1.2Brre
• Genetic Background: B6(Cg)-Apela^tm1.2Brre

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

cardiovascular system

abnormal cardiovascular system morphology ( J:244834 )

• in 42.6% of E10.5 embryos

abnormal glomerular capillary endothelium morphology ( J:244834 )

♀ • endotheliosis in mothers post parturition

absent glomerular endothelium fenestra ( J:244834 )

♀ • in pregnant mothers

glomerular capillary congestion ( J:244834 )

♀ • occluded capillaries in pregnant mothers

♀ • evidence of protein and vesicular deposition on endothelial cells in pregnant mothers

♀ • coagulation of red blood cells in capillary lumens in pregnant mothers

abnormal placental labyrinth vasculature morphology ( J:244834 )

• in many E10.5 embryos

abnormal vascular development ( J:244834 )

• in 42.6% of E10.5 embryos

abnormal angiogenesis ( J:244834 )

• failure of remodeling and angiogenic sprouting of endothelial plexus in many E10.5 embryo placentas

• expansion of endothelial tip versus stalk cells in E9.5 embryo placentas

abnormal dorsal aorta morphology ( J:244834 )

• absent in many E10.5 embryos

abnormal intersomitic artery morphology ( J:244834 )

• absent in many E10.5 embryos

absent vitelline blood vessels ( J:244834 )

• in many E10.5 embryos

absent cardiac outflow tract ( J:244834 )

• in many E10.5 embryos

abnormal heart tube morphology ( J:244834 )

• poorly looped, with reduced smooth actin muscle staining in many E10.5 embryos

pericardial edema ( J:244834 )

• in the most severely affected E10.5 embryos

increased systemic arterial blood pressure ( J:244834 )

♀ • in pregnant mothers mated to homozygous knockout males

♀ • post parturition

embryo

embryo phenotype ( J:244834 )

N • no obvious phenotype in 48.9% of E10.5 embryos

absent vitelline blood vessels ( J:244834 )

• in many E10.5 embryos

increased placenta apoptosis ( J:244834 )

• in many E10.5 embryos

embryonic growth retardation ( J:244834 )

• delayed development in 8.5% of E10.5 embryos

decreased embryo weight ( J:244834 )

• of E18.5 embryos recovered from homozygous knockout mothers by caesarean section

abnormal placenta morphology ( J:244834 )

• reduced proliferation in many E10.5 embryos

abnormal placental labyrinth vasculature morphology ( J:244834 )

• in many E10.5 embryos

thin placenta labyrinth ( J:244834 )

• in many E10.5 embryos

abnormal syncytiotrophoblast morphology ( J:244834 )

• delayed differentiation according to reduced alkaline phosphatase and syncytin 1 activity in most E10.5 embryos

abnormal visceral yolk sac morphology ( J:244834 )

• hypovascular yolk sac in 8.5% of E10.5 embryos

pale yolk sac ( J:244834 )

• avascular yolk sac in 42.6% of E10.5 embryos

renal/urinary system

renal/urinary system phenotype ( J:244834 )

♀N • normal podocytes in pregnant mothers

abnormal glomerular capillary endothelium morphology ( J:244834 )

♀ • endotheliosis in mothers post parturition

absent glomerular endothelium fenestra ( J:244834 )

♀ • in pregnant mothers

glomerular capillary congestion ( J:244834 )

♀ • occluded capillaries in pregnant mothers

♀ • evidence of protein and vesicular deposition on endothelial cells in pregnant mothers

♀ • coagulation of red blood cells in capillary lumens in pregnant mothers

increased urine protein level ( J:244834 )

♀ • in pregnant mothers at gestational day 15; more severe when mated to homozygous knockout than wildtype males

renal glomerular protein deposits ( J:244834 )

♀ • evidence of protein deposition on endothelial cells in pregnant mothers

cellular

increased placenta apoptosis ( J:244834 )

• in many E10.5 embryos

maternal effect ( J:244834 )

♀ • decreased weight of E18.5 homozygous knockout embryos recovered by caesarean section

♀ • only one-third the expected number of homozygous knockout embryos seen at weaning age with homozygous knockout mothers crossed with heterozygous fathers

♀ • reduction in the expected number of homozygous knockout embryos seen at E10.5 with homozygous knockout mothers crossed with heterozygous fathers

growth/size/body

embryonic growth retardation ( J:244834 )

• delayed development in 8.5% of E10.5 embryos

decreased embryo weight ( J:244834 )

• of E18.5 embryos recovered from homozygous knockout mothers by caesarean section

homeostasis/metabolism

pericardial edema ( J:244834 )

• in the most severely affected E10.5 embryos

increased urine protein level ( J:244834 )

♀ • in pregnant mothers at gestational day 15; more severe when mated to homozygous knockout than wildtype males

mortality/aging

lethality, incomplete penetrance ( J:244834 )

• only half the expected number of homozygous knockout embryos seen at weaning age with heterozygous mothers crossed with heterozygous fathers

• only one-third the expected number of homozygous knockout embryos seen at weaning age with homozygous knockout mothers crossed with heterozygous fathers

reproductive system

abnormal litter size ( J:244834 )

♀ • only one-third the expected number of homozygous knockout embryos seen at weaning age with homozygous knockout mothers crossed with heterozygous father

♀ • reduction in the expected number of homozygous knockout embryos seen at E10.5 with homozygous knockout mothers crossed with heterozygous fathers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pre-eclampsia		DOID:10591	OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592	J:244834