Psen2 Phenotype Annotations

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Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Psen2
presenilin 2
MGI:109284

17 phenotypes from 4 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Psen2^{em1(IMPC)Ccpcz}/Psen2^{em1(IMPC)Ccpcz} C57BL/6NCrl-Psen2^{em1(IMPC)Ccpcz}/Ccpcz	abnormal brain morphology	J:211773
	abnormal digit morphology	J:211773
	abnormal heart morphology	J:211773
	abnormal seminal vesicle morphology	J:211773
	abnormal thymus morphology	J:211773
	enlarged thymus	J:211773
	hydrocephaly	J:211773
	increased mean corpuscular hemoglobin	J:211773
	preweaning lethality, incomplete penetrance	J:211773
Psen2^tm1Bdes/Psen2^tm1Bdes involves: 129P2/OlaHsd * C57BL/6J	abnormal pulmonary alveolus wall morphology	J:58118
	abnormal respiratory system physiology	J:58118
	increased lung endothelial cell apoptosis	J:58118
	normal limbs/digits/tail phenotype	J:58118
	lung hemorrhage	J:58118
	normal nervous system phenotype	J:58118
	pulmonary fibrosis	J:58118
Psen2^tm1Ber/Psen2^tm1Ber either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)	no abnormal phenotype detected	J:58465
Psen2^tm1Haa/Psen2^tm1Haa involves: 129S/SvEv * C57BL/6	no abnormal phenotype detected	J:83860

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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