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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Psen1
presenilin 1
MGI:1202717
130 phenotypes from 20 alleles in 22 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Psen1tm1.1(KOMP)Vlcg/Psen1+
C57BL/6N-Psen1tm1.1(KOMP)Vlcg/J 		increased startle reflex J:211773
Psen1tm1.1(KOMP)Vlcg/Psen1+
C57BL/6N-Psen1tm1.1(KOMP)Vlcg/Ucd 		edema J:211773
Psen1tm1.1(KOMP)Vlcg/Psen1tm1.1(KOMP)Vlcg
C57BL/6N-Psen1tm1.1(KOMP)Vlcg/J 		abnormal limb morphology J:211773
abnormal tail morphology J:211773
cyanosis J:211773
edema J:211773
hemorrhage J:211773
preweaning lethality, complete penetrance J:211773
unresponsive to tactile stimuli J:211773
Psen1tm1.1(KOMP)Vlcg/Psen1tm1.1(KOMP)Vlcg
C57BL/6N-Psen1tm1.1(KOMP)Vlcg/Ucd 		abnormal limb morphology J:211773
abnormal tail morphology J:211773
edema J:211773
preweaning lethality, complete penetrance J:211773
Psen1tm1.1Ruvi/Psen1tm1.1Ruvi
C57BL/6J-Psen1tm1.1Ruvi 		abnormal ovary morphology J:187475
female infertility J:187475
increased circulating follicle stimulating hormone level J:187475
normal reproductive system phenotype J:187475
Psen1tm1.1Tcs/Psen1tm1.1Tcs
involves: C57BL/6J 		abnormal limb development J:175901
decreased fetal size J:175901
hemorrhage J:175901
lethality throughout fetal growth and development, complete penetrance J:175901
short tail J:175901
Psen1tm1Bdes/Psen1tm1Bdes
involves: 129P2/OlaHsd 		abnormal body wall morphology J:95663
abnormal brain vasculature morphology J:95663
abnormal cerebral cortex morphology J:95663
abnormal cortical marginal zone morphology J:95663
abnormal meninges morphology J:95663
abnormal neurocranium morphology J:95663
abnormal sagittal suture morphology J:95663
decreased Cajal-Retzius cell number J:95663
enhanced neuronal migration J:95663
fetal growth retardation J:71037
intracerebral hemorrhage J:95663
lethality throughout fetal growth and development, complete penetrance J:71037
omphalocele J:95663
short tail J:71037
Psen1tm1Dgf/Psen1tm1Dgf
involves: 129S1/Sv * 129X1/SvJ * CD-1 		normal nervous system phenotype J:66147
Psen1tm1Hko/Psen1tm1Hko
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal angiogenesis J:84418
abnormal blood vessel morphology J:84418
abnormal brain vasculature morphology J:84418
abnormal capillary morphology J:84418
abnormal rib morphology J:67969
abnormal rostral-caudal patterning of the somites J:67969
abnormal sclerotome morphology J:67969
abnormal skin vasculature morphology J:84418
abnormal vascular development J:84418
abnormal vascular endothelial cell morphology J:84418
abnormal vertebral body morphology J:67969
abnormal vertebral column morphology J:67969
abnormal vertebral lamina morphology J:67969
absent vertebral pedicles J:67969
caudal body truncation J:67969
decreased capillary density J:84418
increased vasodilation J:84418
intracerebral hemorrhage J:84418
neonatal lethality, complete penetrance J:67969
short tail J:84418
skin edema J:84418
vascular stenosis J:84418
Psen1tm1Jzt/Psen1tm1Jzt
involves: C57BL/6 * CBA 		no abnormal phenotype detected J:73252
Psen1tm1Jzt/Psen1tm1Jzt
Tg(Camk2a-cre)T29-1Stl/0
involves: C57BL/6 * CBA 		abnormal contextual conditioning behavior J:73252
abnormal dentate gyrus morphology J:73252
decreased cell proliferation J:73252
Psen1tm1Lpr/Psen1tm1Lpr
involves: 129 * C57BL/6 * CBA 		increased circulating cholesterol level J:128243
Psen1tm1Mpm/Psen1tm1Mpm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		normal behavior/neurological phenotype J:91277, J:99604
increased susceptibility to neuronal excitotoxicity J:51950
neurodegeneration J:51950
Psen1tm1Mpm/Psen1tm1Pcw
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 		abnormal contextual conditioning behavior J:91277
abnormal neuron differentiation J:91277
Psen1tm1Mpm/Psen1tm1Shn
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ 		abnormal limb development J:175901
decreased fetal size J:175901
hemorrhage J:175901
lethality throughout fetal growth and development, complete penetrance J:175901
short tail J:175901
Psen1tm1Pcw/Psen1tm1Pcw
involves: 129S7/SvEvBrd 		abnormal axial skeleton morphology J:40308
abnormal basioccipital bone morphology J:40308
abnormal rib development J:40308
abnormal rostral-caudal patterning of the somites J:40308
abnormal sclerotome morphology J:40308
abnormal somite shape J:40308
abnormal vertebrae development J:40308
decreased embryo size J:40308
decreased fetal size J:40308
failure of somite differentiation J:40308
fused dorsal root ganglion J:40308
intracranial hemorrhage J:40308
intraventricular hemorrhage J:40308
perinatal lethality, complete penetrance J:40308
short tail J:40308
spinal hemorrhage J:40308
Psen1tm1Psgh/Psen1tm1Psgh
Not Specified 		abnormal axial skeleton morphology J:66016
Psen1tm1Shn/Psen1tm1.1Tcs
involves: 129S7/SvEvBrd * C57BL/6J 		abnormal limb development J:175901
decreased fetal size J:175901
embryonic lethality, complete penetrance J:175901
hemorrhage J:175901
short tail J:175901
Psen1tm1Shn/Psen1tm1Shn
involves: 129S7/SvEvBrd * C57BL/6 		abnormal axial skeleton morphology J:40365
abnormal bone ossification J:40365
abnormal brain morphology J:40365
abnormal cerebral cortex morphology J:40365
abnormal costovertebral joint morphology J:40365
abnormal dentate gyrus morphology J:40365
abnormal diencephalon morphology J:40365
abnormal hindlimb morphology J:40365
abnormal hippocampus development J:40365
abnormal lateral ganglionic eminence morphology J:40365
abnormal neuron differentiation J:40365
abnormal postnatal growth/weight/body size J:40365
abnormal pulmonary alveolus morphology J:40365
abnormal rib morphology J:40365
abnormal rostral-caudal patterning of the somites J:40365
abnormal spine curvature J:40365
abnormal sternum morphology J:40365
abnormal third ventricle morphology J:40365
cervical vertebral fusion J:40365
curly tail J:40365
decreased body length J:40365
decreased body weight J:40365
decreased neuronal precursor cell number J:40365
decreased rib number J:40365
dilated lateral ventricle J:40365
intracranial hemorrhage J:40365
kinked tail J:40365
loose skin J:40365
lumbar vertebral fusion J:40365
neonatal lethality, complete penetrance J:40365
neuron degeneration J:40365
occipital bone hypoplasia J:40365
rib fusion J:40365
sacral vertebral fusion J:40365
short rostral-caudal axis J:40365
short sternum J:40365
short tail J:40365
small embryonic telencephalon J:40365
temporal lobe atrophy J:40365
thin cortical plate J:40365
vertebral fusion J:40365
Psen1tm1Shn/Psen1tm1Shn
Not Specified 		abnormal apoptosis J:90392
Psen1tm1Shs/Psen1tm1Shs
involves: 129X1/SvJ * C57BL/6 		double outlet right ventricle J:91716
supravalvar pulmonary trunk stenosis J:91716
ventricular septal defect J:91716
Psen1tm1Shs/Psen1tm1Shs
involves: C57BL/6 		abnormal neuron differentiation J:91975
abnormal neuronal precursor proliferation J:91975
abnormal stratification in cerebral cortex J:91975
decreased embryo size J:91975
enhanced neuronal migration J:91975
increased neuronal precursor cell number J:91975
intracranial hemorrhage J:91975
premature neuronal precursor differentiation J:91975
prenatal lethality, complete penetrance J:91975
short tail J:91975
Psen1tm1Shs/Psen1tm1Shs
Not Specified 		abnormal dorsal-ventral polarity of the somites J:67969
abnormal rib morphology J:67969
abnormal sclerotome morphology J:67969
abnormal thoracic cage morphology J:67969
abnormal vertebral body morphology J:67969
abnormal vertebral column morphology J:67969
abnormal vertebral lamina morphology J:67969
absent vertebral pedicles J:67969, J:78989
omphalocele J:67969
Psen1tm1Tak/Psen1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal brain morphology J:108326
neurofibrillary tangles J:108326
tau protein deposits J:108326
Psen1tm1Tak/Psen1tm1Tak
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal spatial learning J:99353
increased grip strength J:99353
increased startle reflex J:99353
Psen1tm1Vln/Psen1tm1Vln
Not Specified 		no abnormal phenotype detected J:87229
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-cre)1Vln/0
involves: FVB/N 		abnormal long-term potentiation J:87229
amyloid beta deposits J:87229
normal behavior/neurological phenotype J:87229
normal nervous system phenotype J:87229
Psen1tm2.1Shn/Psen1tm2.1Shn
involves: 129S4/SvJae * C57BL/6J 		normal cardiovascular system phenotype J:71606
normal craniofacial phenotype J:71606
normal embryo phenotype J:71606
normal growth/size/body region phenotype J:71606
normal integument phenotype J:71606
normal limbs/digits/tail phenotype J:71606
normal mortality/aging J:71606
normal nervous system phenotype J:71606
normal respiratory system phenotype J:71606
normal skeleton phenotype J:71606
Psen1tm2Shn/Psen1tm2.1Shn
Tg(Camk2a-cre)1Shn/0
involves: 129S4/SvJae * C57BL/6J * CBA 		abnormal long-term spatial reference memory J:71606
abnormal spatial learning J:71606
amyloid beta deposits J:71606
normal nervous system phenotype J:71606
Psen1tm2Shn/Psen1tm2Shn
Tg(Camk2a-cre)1Shn/0
involves: 129S4/SvJae * C57BL/6J * CBA 		abnormal long-term spatial reference memory J:71606
abnormal spatial learning J:71606
amyloid beta deposits J:71606
normal nervous system phenotype J:71606
Psen1tm3.1Shn/Psen1tm3.1Shn
involves: 129 * C57BL/6 * C57BL/6J * CBA 		normal nervous system phenotype J:184454
Psen1tm4.1Shn/Psen1tm4.1Shn
involves: 129 * C57BL/6 * C57BL/6J 		abnormal lateral ganglionic eminence morphology J:219929
decreased cortical ventricular zone thickness J:219929
kinked tail J:219929
perinatal lethality, complete penetrance J:219929
short rostral-caudal axis J:219929
short tail J:219929
Psen1tm5.1Shn/Psen1tm5.1Shn
involves: 129 * C57BL/6 * C57BL/6J 		abnormal lateral ganglionic eminence morphology J:219929
decreased cortical ventricular zone thickness J:219929
kinked tail J:219929
perinatal lethality, complete penetrance J:219929
short rostral-caudal axis J:219929
short tail 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
12/10/2024
MGI 6.24 		The Jackson Laboratory