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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Aph1a
aph1 homolog A, gamma secretase subunit
MGI:2385110
31 phenotypes from 4 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Aph1atm1.1Bdes/Aph1atm1.1Bdes
involves: 129P2/OlaHsd * C57BL/6J
abnormal dermomyotome development J:96106
abnormal embryonic neuroepithelium morphology J:96106
abnormal mesoderm development J:96106
abnormal rostral-caudal axis patterning J:96106
abnormal sclerotome morphology J:96106
abnormal somite development J:96106
abnormal somite shape J:96106
abnormal telencephalon development J:96106
abnormal vascular branching morphogenesis J:96106
abnormal vitelline vascular remodeling J:96106
decreased embryo size J:96106
decreased somite size J:96106
distended pericardium J:96106
embryonic lethality during organogenesis, complete penetrance J:96106
increased embryonic neuroepithelium apoptosis J:96106
kinked neural tube J:96106
Aph1atm1b(KOMP)Mbp/Aph1a+
C57BL/6N-Aph1atm1b(KOMP)Mbp/Bay
abnormal coat appearance J:211773
abnormal skin coloration J:211773
decreased total retina thickness J:211773
hyperactivity J:211773
increased bone mineral content J:211773
Aph1atm1b(KOMP)Mbp/Aph1atm1b(KOMP)Mbp
C57BL/6N-Aph1atm1b(KOMP)Mbp/Bay
abnormal embryo size J:211773
embryonic lethality prior to tooth bud stage J:211773
pale yolk sac J:211773
pallor J:211773
preweaning lethality, complete penetrance J:211773
Aph1atm1Bdes/Aph1atm1Bdes
involves: 129P2/OlaHsd * C57BL/6
no abnormal phenotype detected J:96106
Aph1atm1Pcw/Aph1atm1Pcw
involves: 129X1/SvJ * C57BL/6
abnormal heart development J:95769
abnormal somite development J:95769
abnormal vitelline vasculature morphology J:95769
distended pericardium J:95769
embryonic growth arrest J:95769
embryonic lethality during organogenesis, complete penetrance J:95769
kinked neural tube J:95769
small first pharyngeal arch J:95769

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory