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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Psen1
presenilin 1
MGI:1202717
133 phenotypes from multigenic genotypes
Export: Excel File
Allelic Composition
Genetic Background		 Annotated Term Reference
Apptm1.1Cep/Apptm1.1Cep
Psen1tm1Dgf/Psen1tm1Dgf
involves: 129S1/Sv * 129X1/SvJ * CD-1 		amyloid beta deposits J:66147, J:102425
Apptm1Ck/Apptm1Ck
Psen1tm1Mpm/Psen1tm1Mpm
involves: 129 * 129S1/Sv * 129X1/SvJ 		abnormal brain morphology J:191170
abnormal spatial working memory J:191170
amyloid beta deposits J:166379
enhanced contextual conditioning behavior J:191170
increased anxiety-related response J:191170
increased circulating corticosterone level J:191170
Apptm1Ck/Apptm1Ck
Psen1tm1Mpm/Psen1tm1Mpm
Tg(MAPT)8cPdav/0
B6.Cg-Tg(MAPT)8cPdav Psen1tm1Mpm Apptm1Ck 		amyloid beta deposits J:209782
decreased locomotor activity J:209782
enhanced contextual conditioning behavior J:209782
increased anxiety-related response J:209782
increased fear-related response J:209782
tau protein deposits J:209782
Apptm3.1Zhe/Apptm3.1Zhe
Psen1tm1Mpm/Psen1tm1Mpm
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 		amyloid beta deposits J:166379
Cx3cr1tm1Litt/Cx3cr1+
Psen1tm1Mpm/Psen1tm1Mpm
Tg(APPSwe,tauP301L)1Lfa/0
Tg(Thy1-YFP)HJrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal microglial cell morphology J:159680
abnormal microglial cell physiology J:159680
neuron degeneration J:159680
Cx3cr1tm1Litt/Cx3cr1tm1Litt
Psen1tm1Mpm/Psen1tm1Mpm
Tg(APPSwe,tauP301L)1Lfa/0
Tg(Thy1-YFP)HJrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		normal nervous system phenotype J:159680
Mesp2tm4Ysa/Mesp2tm4Ysa
Psen1tm1Shs/Psen1tm1Shs
involves: C57BL/6 * CBA 		abnormal vertebral arch morphology J:78989
Mesp2tm5(Notch1)Ysa/Mesp2tm5(Notch1)Ysa
Psen1tm1Shs/Psen1tm1Shs
involves: C57BL/6 * CBA 		abnormal vertebral arch morphology J:78989
Psen1tm1.1Ruvi/Psen1tm1.1Ruvi
Tg(APP)8.9Btla/0
involves: 129S2/SvPas * C57BL/6J 		amyloid beta deposits J:187475
astrocytosis J:187475
microgliosis J:187475
neurodegeneration J:187475
Psen1tm1.1Tcs/Psen1tm1.1Tcs
Tg(APPSWE)2576Kha/0
involves: C57BL/6 * C57BL/6J * SJL 		abnormal short-term spatial reference memory J:175901
amyloid beta deposits J:175901
astrocytosis J:175901
Psen1tm1Bdes/Psen1+
Psen2tm1Bdes/Psen2tm1Bdes
involves: 129P2/OlaHsd 		abnormal cornea epithelium morphology J:91235
abnormal epidermal layer morphology J:91235
abnormal skin condition J:91235
abnormal T cell subpopulation ratio J:91235
arteritis J:91235
autoimmune response J:91235
chronic inflammation J:91235
dermatitis J:91235
enlarged lymph nodes J:91235
enlarged spleen J:91235
epidermal cyst J:91235
epidermal hyperplasia J:91235
glomerulonephritis J:91235
hematuria J:91235
hyperkeratosis J:91235
increased anti-single stranded DNA antibody level J:91235
increased immunoglobulin level J:91235
increased incidence of corneal inflammation J:91235
increased inflammatory response J:91235
increased leukocyte cell number J:91235
increased susceptibility to autoimmune disorder J:91235
increased urine protein level J:91235
kidney inflammation J:91235
skin inflammation J:91235
skin lesions J:91235
spontaneous skin ulceration J:91235
Psen1tm1Bdes/Psen1tm1Bdes
Psen2tm1Bdes/Psen2tm1Bdes
involves: 129P2/OlaHsd * C57BL/6J 		abnormal blood circulation J:58118
abnormal brain development J:58118
abnormal forebrain development J:58118
abnormal hindbrain development J:58118
abnormal visceral yolk sac morphology J:58118
abnormal vitelline vascular remodeling J:58118
abnormal vitelline vasculature morphology J:58118
caudal body truncation J:58118
distended pericardium J:58118
embryonic growth retardation J:58118
kinked neural tube J:58118
prenatal lethality, complete penetrance J:58118
Psen1tm1Dgf/Psen1+
Tg(APPSWE)2576Kha/0
involves: 129S1/Sv * 129X1/SvJ * CD-1 * C57BL/6 * SJL 		amyloid beta deposits J:66147
gliosis J:66147
Psen1tm1Dgf/Psen1tm1Dgf
Tg(APPSWE)2576Kha/?
involves: 129 * C57BL/6 * CD-1 * SJL 		amyloid beta deposits J:102425
Psen1tm1Jzt/Psen1tm1Jzt
Psen2tm1Ber/Psen2tm1Ber
Tg(Camk2a-cre)T29-1Stl/0
involves: C57BL/6 * CBA 		abnormal apoptosis J:90685
abnormal cerebral cortex morphology J:90685
abnormal corpus callosum morphology J:90685
abnormal hippocampus molecular cell layer J:90685
abnormal neuron morphology J:90685
abnormal object recognition memory J:90685
enlarged lateral ventricles J:90685
enlarged third ventricle J:90685
gliosis J:90685
hyperactivity J:90685
neurodegeneration J:90685
weight loss J:90685
Psen1tm1Lpr/Psen1tm1Lpr
Tg(Thy1-APPSL)28Lpr/0
either: 129/Sv or (involves: 129/Sv * C57BL/6) 		abnormal hippocampus pyramidal cell layer J:93770
amyloid beta deposits J:93770
Psen1tm1Lpr/Psen1tm1Lpr
Tg(Thy1-APPSL)28Lpr/0
involves: 129 * C57BL/6 * CBA 		abnormal axon morphology J:128106
abnormal dentate gyrus morphology J:139736
abnormal frontal lobe morphology J:146342
abnormal hippocampus granule cell morphology J:139736
abnormal hippocampus morphology J:139736
abnormal myelin sheath morphology J:128106
abnormal neurite morphology J:128106
abnormal thalamus morphology J:146342
amyloid beta deposits J:128106, J:128243, J:139736, J:146342
decreased body weight J:128106
decreased circulating cholesterol level J:128243
decreased neuron number J:146342
impaired coordination J:128106
increased circulating cholesterol level J:128243
limb grasping J:128106
Psen1tm1Mpm/Psen1tm1Mpm
Tg(APPSWE)2576Kha/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		amyloid beta deposits J:175901
Psen1tm1Mpm/Psen1tm1Mpm
Tg(APPSwe,tauP301L)1Lfa/?
B6.Cg-Psen1tm1Mpm Tg(APPSwe,tauP301L)1Lfa 		abnormal behavior J:170670
Psen1tm1Mpm/Psen1tm1Mpm
Tg(APPSwe,tauP301L)1Lfa/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		amyloid beta deposits J:107286
neurofibrillary tangles J:107286
Psen1tm1Mpm/Psen1tm1Mpm
Tg(APPSwe,tauP301L)1Lfa/Tg(APPSwe,tauP301L)1Lfa
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal contextual conditioning behavior J:99604
abnormal learning/memory/conditioning J:99604
amyloid beta deposits J:99604
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J 		no abnormal phenotype detected J:58465
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2tm1Ber
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J 		no abnormal phenotype detected J:58465
Psen1tm1Pcw/Psen1tm1Pcw
Psen2tm1Ber/Psen2+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J 		abnormal heart looping J:58465
abnormal neural tube morphology J:58465
delayed neural tube closure J:58465
embryonic lethality during organogenesis, complete penetrance J:58465
failure of somite differentiation J:58465
small heart J:58465
small second pharyngeal arch J:58465
Psen1tm1Pcw/Psen1tm1Pcw
Psen2tm1Ber/Psen2tm1Ber
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J 		abnormal chorioallantoic fusion J:58465
abnormal forebrain morphology J:58465
abnormal midbrain development J:58465
abnormal neural tube morphology J:58465
abnormal paraxial mesoderm morphology J:58465
abnormal somite development J:58465
delayed neural tube closure J:58465
embryonic lethality during organogenesis, complete penetrance J:58465
failure of heart looping J:58465
kinked neural tube J:58465
small heart J:58465
small second pharyngeal arch J:58465
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-APPLon)2Vln/0
Tg(Thy1-cre)1Vln/0
involves: FVB/N 		abnormal long-term potentiation J:87229
abnormal object recognition memory J:87229
normal nervous system phenotype J:87229
Psen1tm1Zhe/Psen1tm1Zhe
Tg(APPSWE)2576Kha/?
involves: 129S7/SvEvBrd * C57BL/6 * SJL 		amyloid beta deposits J:107251
Psen1tm2Psgh/Psen1tm2Psgh
involves: 129S1/Sv * 129X1/SvJ 		abnormal axial skeleton morphology J:80624
abnormal forebrain morphology J:80624
abnormal spinal cord morphology J:80624
abnormal vertebrae morphology J:80624
abnormal vertebral body morphology J:80624
abnormal vertebral column morphology J:80624
abnormal vertebral lamina morphology J:80624
decreased body size J:80624
hindlimb paralysis J:80624
intracranial hemorrhage J:80624
kinked tail J:80624
normal nervous system phenotype J:80624
postnatal lethality, incomplete penetrance J:80624
premature death J:80624
prenatal lethality, incomplete penetrance J:80624
short tail J:80624
spinal hemorrhage J:80624
Psen1tm2Shn/Psen1tm2Shn
Psen2tm1Haa/Psen2+
Tg(Msx2-cre)5Rem/0
involves: 129S4/SvJae 		abnormal hair follicle morphology J:94517
Psen1tm2Shn/Psen1tm2Shn
Psen2tm1Haa/Psen2tm1Haa
Tg(Msx2-cre)5Rem/0
involves: 129S4/SvJae * C57BL/6 * CBA 		abnormal hair follicle inner root sheath morphology J:94517
abnormal hair follicle morphology J:94517
abnormal hair growth J:94517
absent sebocyte J:94517
decreased body size J:94517
epidermal cyst J:94517
epidermal hyperplasia J:94517
esophagus hyperplasia J:94517
focal hair loss J:94517
hair follicle degeneration J:94517
premature death J:94517
scaly skin J:94517
short hair J:94517
thick epidermis J:94517
thick skin J:94517
Psen1tm2Shn/Psen1tm4.1Shn
Psen2tm1Haa/Psen2tm1Haa
Tg(Camk2a-cre)1Shn/0
involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA 		abnormal cerebral cortex morphology J:219929
abnormal neocortex morphology J:219929
astrocytosis J:219929
decreased neuron number J:219929
microgliosis J:219929
neurodegeneration J:219929
Psen1tm3.1Shn/Psen1tm3.1Shn
Psen2tm1Haa/Psen2tm1Haa
involves: 129 * C57BL/6 * C57BL/6J * CBA 		abnormal spatial working memory J:184454
Psen1tm4.1Shn/Psen1+
Psen2tm1Haa/Psen2tm1Haa
involves: 129 * C57BL/6 * C57BL/6J 		abnormal spatial reference memory J:219929
decreased paired-pulse facilitation J:219929
impaired synaptic plasticity J:219929
increased synaptic depression J:219929
reduced long-term potentiation J:219929
Psen1tm4.1Shn/Psen1+
Tg(PDGFB-APP)5Lms/0
involves: 129 * C57BL/6 * C57BL/6J * DBA/2 		normal nervous system phenotype J:219929
Psen1tm4.1Shn/Psen1+
Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
involves: 129 * C57BL/6 * C57BL/6J * DBA/2 		amyloid beta deposits J:219929
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory