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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Psen2
presenilin 2
MGI:109284
87 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
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
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
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
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
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
06/12/2024
MGI 6.13 		The Jackson Laboratory