Phenotypes Associated with This Genotype

Genotype
MGI:3617376

• Allelic Composition: Psen1^tm1Pcw/Psen1^tm1Pcw; Psen2^tm1Ber/Psen2⁺
• 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 )

• mutant embryos die between E9.5 and E13.5

embryo

small second pharyngeal arch ( J:58465 )

• at E9, mutant embryos display underdeveloped second branchial arches

abnormal neural tube morphology ( J:58465 )

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

delayed neural tube closure ( J:58465 )

• at E9, mutant embryos display a delay in the closure of the anterior neuropore

failure of somite differentiation ( J:58465 )

• at E8.5-E9, mutant embryos display a variable phenotype, ranging from no somite segmentation to the formation of highly disorganized somites

nervous system

abnormal neural tube morphology ( J:58465 )

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

delayed neural tube closure ( J:58465 )

• at E9, mutant embryos display a delay in the closure of the anterior neuropore

cardiovascular system

abnormal heart looping ( J:58465 )

• some mutant embryos exhibit heart looping delays at E8.5 and E9, whereas others show partial heart looping at E9

small heart ( J:58465 )

craniofacial

small second pharyngeal arch ( J:58465 )

• at E9, mutant embryos display underdeveloped second branchial arches