Phenotypes Associated with This Genotype

Genotype
MGI:3702892

• Allelic Composition: Psen1^tm1Bdes/Psen1^tm1Bdes; Psen2^tm1Bdes/Psen2^tm1Bdes
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Psen1^tm1Bdes/Psen1^tm1Bdes Psen2^tm1Bdes/Psen2^tm1Bdes embryos display severe growth retardation at E9.5

mortality/aging

prenatal lethality, complete penetrance ( J:58118 )

• time of lethality is not specified although mutants are recovered at E9.5

growth/size/body

embryonic growth retardation ( J:58118 )

• embryos are developmentally retarded by about half a day at E9.5

embryo

abnormal vitelline vasculature morphology ( J:58118 )

• vasculogenesis of the yolk sac is delayed in most mutants

caudal body truncation ( J:58118 )

• embryos are posteriorly truncated

embryonic growth retardation ( J:58118 )

• embryos are developmentally retarded by about half a day at E9.5

kinked neural tube ( J:58118 )

• neural tube often has a kinked appearance

abnormal visceral yolk sac morphology ( J:58118 )

• yolk sacs do not expand properly and often have a blistered appearance

abnormal vitelline vascular remodeling ( J:58118 )

• although the initial vascular plexus and primitive red blood cells form, organization into a discrete network of vitelline vessels does not occur

cardiovascular system

abnormal vitelline vasculature morphology ( J:58118 )

• vasculogenesis of the yolk sac is delayed in most mutants

distended pericardium ( J:58118 )

• occasionally the pericardial sacs are enlarged

abnormal blood circulation ( J:58118 )

• embryo is devoid of blood circulation

nervous system

kinked neural tube ( J:58118 )

• neural tube often has a kinked appearance

abnormal brain development ( J:58118 )

• fusion of headfolds is delayed

abnormal forebrain development ( J:58118 )

• mutants at E9.5 have a vestigial forebrain

abnormal hindbrain development ( J:58118 )

• mutants at E9.5 have a vestigial hindbrain