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Phenotypes Associated with This Genotype
Genotype
MGI:2174996
Allelic
Composition
Psen1tm1Pcw/Psen1tm1Pcw
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation (0 available); any Psen1 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are present at the expected Mendelian frequencies from E8.5 to E18.5 but fail to survive beyond P1

embryo
• at E11.5, mutant embryos display disrupted somite segment polarity
• failure of sclerotome condensation suggests that the identity of the caudal halves of each segment are not specified
• at E10-E18, mutant embryos are significantly smaller than wild-type embryos
• at E9.5, mutant embryos display irregularly-shaped somites along the entire length of the neural tube
• at E9.5, mutant embryos display absence of somites at the caudal most regions; some somites appear compressed and fused, lacking a symmetric segmentation pattern across the midline
• despite defective somite segmentation, specification of somitic cell lineages (i.e. sclerotome and dermomyotome) appears unaffected at E10.5

skeleton
• at E13.5, homozygotes show significant defects in the formation of the vertebral column and ribs
• at E15.5, homozygotes exhibit abnormal bending of the basioccipital bone; the angle formed between the basioccipital bone and the atlas is distorted
• at E13.5, homozygotes display defective rib development
• at E13.5, homozygotes display fusion of the vertebral rudiments
• by E15.5, mutants show a significantly reduced vertebral column with abnormal segmentation adjacent to the spinal cord and fusion of the dorsal arches
• at E11.5, mutant embryos fail to exhibit sclerotome intrasegmental condensation

nervous system
• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed
• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved
• at E15.5, mutant DRG appear fused over multiple segments along the craniocaudal axis of the vertebral column

growth/size/body
• at E10-E18, mutant embryos are significantly smaller than wild-type embryos
• at E10-E18, mutant mice are significantly smaller than wild-type mice

limbs/digits/tail
• at E10-E18, mutant embryos exhibit a stubby tail

cardiovascular system
• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed
• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved

craniofacial
• at E15.5, homozygotes exhibit abnormal bending of the basioccipital bone; the angle formed between the basioccipital bone and the atlas is distorted


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory