About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Psen1tm1Pcw
targeted mutation 1, Philip C Wong
MGI:1930934
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Psen1tm1Pcw/Psen1tm1Pcw involves: 129S7/SvEvBrd MGI:2174996
ht2
Psen1tm1Mpm/Psen1tm1Pcw involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:3702925
cx3
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J MGI:3617373
cx4
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2tm1Ber
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J MGI:3617374
cx5
Psen1tm1Pcw/Psen1tm1Pcw
Psen2tm1Ber/Psen2tm1Ber
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J MGI:3617375
cx6
Psen1tm1Pcw/Psen1tm1Pcw
Psen2tm1Ber/Psen2+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J MGI:3617376


Genotype
MGI:2174996
hm1
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 (22 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 (J:40308)
• homozygotes are present at the expected Mendelian frequencies from E8.5 to E18.5 but fail to survive beyond P1 (J:40308)

embryogenesis
• at E11.5, mutant embryos display disrupted somite segment polarity (J:40308)
• failure of sclerotome condensation suggests that the identity of the caudal halves of each segment are not specified (J:40308)
• at E11.5, mutant embryos display disrupted somite segment polarity (J:40308)
• failure of sclerotome condensation suggests that the identity of the caudal halves of each segment are not specified (J:40308)
• at E10-E18, mutant embryos are significantly smaller than wild-type embryos (J:40308)
• at E10-E18, mutant embryos are significantly smaller than wild-type embryos (J:40308)
• at E9.5, mutant embryos display irregularly-shaped somites along the entire length of the neural tube (J:40308)
• at E9.5, mutant embryos display irregularly-shaped somites along the entire length of the neural tube (J:40308)
• 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 (J:40308)
• despite defective somite segmentation, specification of somitic cell lineages (i.e. sclerotome and dermomyotome) appears unaffected at E10.5 (J:40308)
• 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 (J:40308)
• despite defective somite segmentation, specification of somitic cell lineages (i.e. sclerotome and dermomyotome) appears unaffected at E10.5 (J:40308)

skeleton
• at E13.5, homozygotes show significant defects in the formation of the vertebral column and ribs (J:40308)
• at E13.5, homozygotes show significant defects in the formation of the vertebral column and ribs (J:40308)
• at E15.5, homozygotes exhibit abnormal bending of the basioccipital bone; the angle formed between the basioccipital bone and the atlas is distorted (J:40308)
• at E15.5, homozygotes exhibit abnormal bending of the basioccipital bone; the angle formed between the basioccipital bone and the atlas is distorted (J:40308)
• at E13.5, homozygotes display defective rib development (J:40308)
• at E13.5, homozygotes display defective rib development (J:40308)
• at E13.5, homozygotes display fusion of the vertebral rudiments (J:40308)
• by E15.5, mutants show a significantly reduced vertebral column with abnormal segmentation adjacent to the spinal cord and fusion of the dorsal arches (J:40308)
• at E13.5, homozygotes display fusion of the vertebral rudiments (J:40308)
• by E15.5, mutants show a significantly reduced vertebral column with abnormal segmentation adjacent to the spinal cord and fusion of the dorsal arches (J:40308)
• at E11.5, mutant embryos fail to exhibit sclerotome intrasegmental condensation (J:40308)
• at E11.5, mutant embryos fail to exhibit sclerotome intrasegmental condensation (J:40308)

nervous system
• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed (J:40308)
• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed (J:40308)
• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved (J:40308)
• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved (J:40308)
• at E15.5, mutant DRG appear fused over multiple segments along the craniocaudal axis of the vertebral column (J:40308)
• at E15.5, mutant DRG appear fused over multiple segments along the craniocaudal axis of the vertebral column (J:40308)

growth/size/body
• at E10-E18, mutant embryos are significantly smaller than wild-type embryos (J:40308)
• at E10-E18, mutant embryos are significantly smaller than wild-type embryos (J:40308)
• at E10-E18, mutant mice are significantly smaller than wild-type mice (J:40308)
• at E10-E18, mutant mice are significantly smaller than wild-type mice (J:40308)

limbs/digits/tail
• at E10-E18, mutant embryos exhibit a stubby tail (J:40308)
• at E10-E18, mutant embryos exhibit a stubby tail (J:40308)

cardiovascular system
• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed (J:40308)
• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed (J:40308)
• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved (J:40308)
• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved (J:40308)

craniofacial
• at E15.5, homozygotes exhibit abnormal bending of the basioccipital bone; the angle formed between the basioccipital bone and the atlas is distorted (J:40308)
• at E15.5, homozygotes exhibit abnormal bending of the basioccipital bone; the angle formed between the basioccipital bone and the atlas is distorted (J:40308)




Genotype
MGI:3702925
ht2
Allelic
Composition
Psen1tm1Mpm/Psen1tm1Pcw
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Mpm mutation (2 available); any Psen1 mutation (22 available)
Psen1tm1Pcw mutation (0 available); any Psen1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• exhibit impaired hippocampus-dependent contextual fear learning at 3 months of age, showing reduced freezing behavior (J:91277)
• however, show normal cued fear learning, anxiety, motor coordination and shock threshold (J:91277)
• exhibit impaired hippocampus-dependent contextual fear learning at 3 months of age, showing reduced freezing behavior (J:91277)
• however, show normal cued fear learning, anxiety, motor coordination and shock threshold (J:91277)

nervous system
• exhibit a 35% decrease in the number of newborn cells in the dentate gyrus of 3-month old mutants, indicating impaired adult neurogenesis (J:91277)
• exhibit a 35% decrease in the number of newborn cells in the dentate gyrus of 3-month old mutants, indicating impaired adult neurogenesis (J:91277)

cellular
• exhibit a 35% decrease in the number of newborn cells in the dentate gyrus of 3-month old mutants, indicating impaired adult neurogenesis (J:91277)
• exhibit a 35% decrease in the number of newborn cells in the dentate gyrus of 3-month old mutants, indicating impaired adult neurogenesis (J:91277)

Mouse Models of Human Disease
OMIM ID Ref(s)
Alzheimer Disease 3 607822 J:91277
Alzheimer Disease; AD 104300 J:91277




Genotype
MGI:3617373
cx3
Allelic
Composition
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation (0 available); any Psen1 mutation (22 available)
Psen2tm1Ber mutation (0 available); any Psen2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• double heterozygotes are viable and phenotypically normal (J:58465)
• double heterozygotes are viable and phenotypically normal (J:58465)




Genotype
MGI:3617374
cx4
Allelic
Composition
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2tm1Ber
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation (0 available); any Psen1 mutation (22 available)
Psen2tm1Ber mutation (0 available); any Psen2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mutant mice are viable and phenotypically normal (J:58465)
• mutant mice are viable and phenotypically normal (J:58465)




Genotype
MGI:3617375
cx5
Allelic
Composition
Psen1tm1Pcw/Psen1tm1Pcw
Psen2tm1Ber/Psen2tm1Ber
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation (0 available); any Psen1 mutation (22 available)
Psen2tm1Ber mutation (0 available); any Psen2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double homozygotes die at E9-E9.5 probably due to cardiovascular failure (J:58465)
• double homozygotes die at E9-E9.5 probably due to cardiovascular failure (J:58465)

embryogenesis
• at E8.5, double homozygotes display underdeveloped second branchial arches (J:58465)
• at E8.5, double homozygotes display underdeveloped second branchial arches (J:58465)
• at E8.5, double homozygotes exhibit disorganization of the trunk paraxial mesoderm (J:58465)
• at E8.5, double homozygotes exhibit disorganization of the trunk paraxial mesoderm (J:58465)
• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube (J:58465)
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells (J:58465)
• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube (J:58465)
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells (J:58465)
• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore (J:58465)
• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore (J:58465)
• at E8.5-E9, double homozygotes exhibit a kinked neural tube (J:58465)
• at E8.5-E9, double homozygotes exhibit a kinked neural tube (J:58465)
• at E8.5-E9, double homozygotes display abnormal somite segmentation (J:58465)
• at E8.5-E9, double homozygotes display abnormal somite segmentation (J:58465)
• at E9-E9.5, double homozygotes exhibit chorioallantoic fusion defects (J:58465)
• at E9-E9.5, double homozygotes exhibit chorioallantoic fusion defects (J:58465)

nervous system
• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube (J:58465)
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells (J:58465)
• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube (J:58465)
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells (J:58465)
• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore (J:58465)
• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore (J:58465)
• at E8.5-E9, double homozygotes exhibit a kinked neural tube (J:58465)
• at E8.5-E9, double homozygotes exhibit a kinked neural tube (J:58465)
• at E8.5 and E9, double homozygotes display loss of mesenchyme cells in the presumptive midbrain (J:58465)
• at E8.5 and E9, double homozygotes display loss of mesenchyme cells in the presumptive midbrain (J:58465)
• at E8.5, double homozygotes show an apparent expanded forebrain (J:58465)
• at E8.5, double homozygotes show an apparent expanded forebrain (J:58465)

cardiovascular system
• at E8.5 and E9, double homozygotes exhibit unlooped hearts (J:58465)
• at E8.5 and E9, double homozygotes exhibit unlooped hearts (J:58465)

craniofacial
• at E8.5, double homozygotes display underdeveloped second branchial arches (J:58465)
• at E8.5, double homozygotes display underdeveloped second branchial arches (J:58465)




Genotype
MGI:3617376
cx6
Allelic
Composition
Psen1tm1Pcw/Psen1tm1Pcw
Psen2tm1Ber/Psen2+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation (0 available); any Psen1 mutation (22 available)
Psen2tm1Ber mutation (0 available); any Psen2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant embryos die between E9.5 and E13.5 (J:58465)
• mutant embryos die between E9.5 and E13.5 (J:58465)

embryogenesis
• at E9, mutant embryos display underdeveloped second branchial arches (J:58465)
• at E9, mutant embryos display underdeveloped second branchial arches (J:58465)
• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube (J:58465)
• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube (J:58465)
• at E9, mutant embryos display a delay in the closure of the anterior neuropore (J:58465)
• at E9, mutant embryos display a delay in the closure of the anterior neuropore (J:58465)
• at E8.5-E9, mutant embryos display a variable phenotype, ranging from no somite segmentation to the formation of highly disorganized somites (J:58465)
• at E8.5-E9, mutant embryos display a variable phenotype, ranging from no somite segmentation to the formation of highly disorganized somites (J:58465)

nervous system
• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube (J:58465)
• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube (J:58465)
• at E9, mutant embryos display a delay in the closure of the anterior neuropore (J:58465)
• at E9, mutant embryos display a delay in the closure of the anterior neuropore (J:58465)

cardiovascular system
• some mutant embryos exhibit heart looping delays at E8.5 and E9, whereas others show partial heart looping at E9 (J:58465)
• some mutant embryos exhibit heart looping delays at E8.5 and E9, whereas others show partial heart looping at E9 (J:58465)

craniofacial
• at E9, mutant embryos display underdeveloped second branchial arches (J:58465)
• at E9, mutant embryos display underdeveloped second branchial arches (J:58465)





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory