All Phenotypes Psen1<tm1Pcw> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psen1^tm1Pcw/Psen1^tm1Pcw	involves: 129S7/SvEvBrd	MGI:2174996
ht2	Psen1^tm1Mpm/Psen1^tm1Pcw	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:3702925
cx3	Psen1^tm1Pcw/Psen1⁺ Psen2^tm1Ber/Psen2⁺	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J	MGI:3617373
cx4	Psen1^tm1Pcw/Psen1⁺ Psen2^tm1Ber/Psen2^tm1Ber	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J	MGI:3617374
cx5	Psen1^tm1Pcw/Psen1^tm1Pcw Psen2^tm1Ber/Psen2^tm1Ber	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J	MGI:3617375
cx6	Psen1^tm1Pcw/Psen1^tm1Pcw Psen2^tm1Ber/Psen2⁺	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J	MGI:3617376

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

mortality/aging

perinatal lethality, complete penetrance ( J:40308 )

• homozygotes are present at the expected Mendelian frequencies from E8.5 to E18.5 but fail to survive beyond P1

embryo

abnormal rostral-caudal patterning of the somites ( J:40308 )

• 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

decreased embryo size ( J:40308 )

• at E10-E18, mutant embryos are significantly smaller than wild-type embryos

abnormal somite shape ( J:40308 )

• at E9.5, mutant embryos display irregularly-shaped somites along the entire length of the neural tube

failure of somite differentiation ( 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

• despite defective somite segmentation, specification of somitic cell lineages (i.e. sclerotome and dermomyotome) appears unaffected at E10.5

skeleton

abnormal axial skeleton morphology ( J:40308 )

• at E13.5, homozygotes show significant defects in the formation of the vertebral column and ribs

abnormal basioccipital bone morphology ( 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

abnormal rib development ( J:40308 )

• at E13.5, homozygotes display defective rib development

abnormal vertebrae development ( J:40308 )

• 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

abnormal sclerotome morphology ( J:40308 )

• at E11.5, mutant embryos fail to exhibit sclerotome intrasegmental condensation

nervous system

intracranial hemorrhage ( J:40308 )

• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed

intraventricular hemorrhage ( J:40308 )

• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved

spinal hemorrhage ( J:40308 )

fused dorsal root ganglion ( J:40308 )

• at E15.5, mutant DRG appear fused over multiple segments along the craniocaudal axis of the vertebral column

growth/size/body

decreased embryo size ( J:40308 )

• at E10-E18, mutant embryos are significantly smaller than wild-type embryos

decreased fetal size ( J:40308 )

• at E10-E18, mutant mice are significantly smaller than wild-type mice

limbs/digits/tail

short tail ( J:40308 )

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

cardiovascular system

intracranial hemorrhage ( J:40308 )

• at E11.5, all homozygotes exhibit hemorrhages beneath the primordial dura and leptomeninges, and in neural parenchyma; rare focal necrosis is observed

intraventricular hemorrhage ( J:40308 )

• at E11.5, all homozygotes exhibit hemorrhages within the ventricles; however, overall architecture and cellularity of the brain is preserved

spinal hemorrhage ( J:40308 )

craniofacial

abnormal basioccipital bone morphology ( 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

Allelic Composition	Psen1^tm1Mpm/Psen1^tm1Pcw
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1^tm1Mpm mutation (4 available); any Psen1 mutation (46 available)
Psen1^tm1Pcw mutation (0 available); any Psen1 mutation (46 available)

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

behavior/neurological

abnormal contextual conditioning behavior ( J:91277 )

• exhibit impaired hippocampus-dependent contextual fear learning at 3 months of age, showing reduced freezing behavior

• however, show normal cued fear learning, anxiety, motor coordination and shock threshold

nervous system

abnormal neuron differentiation ( 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

cellular

abnormal neuron differentiation ( 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

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease	DOID:10652		J:91277
Alzheimer's disease 3	DOID:0110042	OMIM:607822	J:91277

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1^tm1Pcw mutation (0 available); any Psen1 mutation (46 available)
Psen2^tm1Ber mutation (0 available); any Psen2 mutation (31 available)

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

normal phenotype

no abnormal phenotype detected ( J:58465 )

• double heterozygotes are viable and phenotypically normal

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

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:58465 )

• mutant mice are viable and phenotypically normal

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

Find Mice

♀	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

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

Find Mice

♀	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

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