Phenotypes Associated with This Genotype

Genotype
MGI:3617375

• Allelic Composition: Psen1^tm1Pcw/Psen1^tm1Pcw; Psen2^tm1Ber/Psen2^tm1Ber
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:58465 )

• double homozygotes die at E9-E9.5 probably due to cardiovascular failure

embryo

small second pharyngeal arch ( J:58465 )

• at E8.5, double homozygotes display underdeveloped second branchial arches

abnormal paraxial mesoderm morphology ( J:58465 )

• at E8.5, double homozygotes exhibit disorganization of the trunk paraxial mesoderm

abnormal neural tube morphology ( J:58465 )

• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube

• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells

delayed neural tube closure ( J:58465 )

• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore

kinked neural tube ( J:58465 )

• at E8.5-E9, double homozygotes exhibit a kinked neural tube

abnormal somite development ( J:58465 )

• at E8.5-E9, double homozygotes display abnormal somite segmentation

abnormal chorioallantoic fusion ( J:58465 )

• at E9-E9.5, double homozygotes exhibit chorioallantoic fusion defects

nervous system

abnormal neural tube morphology ( J:58465 )

• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube

• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells

delayed neural tube closure ( J:58465 )

• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore

kinked neural tube ( J:58465 )

• at E8.5-E9, double homozygotes exhibit a kinked neural tube

abnormal midbrain development ( J:58465 )

• at E8.5 and E9, double homozygotes display loss of mesenchyme cells in the presumptive midbrain

abnormal forebrain morphology ( J:58465 )

• at E8.5, double homozygotes show an apparent expanded forebrain

cardiovascular system

failure of heart looping ( J:58465 )

• at E8.5 and E9, double homozygotes exhibit unlooped hearts

small heart ( J:58465 )

craniofacial

small second pharyngeal arch ( J:58465 )

• at E8.5, double homozygotes display underdeveloped second branchial arches