Aph1a Phenotype Annotations

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

Allelic Composition Genetic Background	Annotated Term	Reference
Aph1a^tm1.1Bdes/Aph1a^tm1.1Bdes 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
Aph1a^{tm1b(KOMP)Mbp}/Aph1a⁺ C57BL/6N-Aph1a^{tm1b(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
Aph1a^{tm1b(KOMP)Mbp}/Aph1a^{tm1b(KOMP)Mbp} C57BL/6N-Aph1a^{tm1b(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
Aph1a^tm1Bdes/Aph1a^tm1Bdes involves: 129P2/OlaHsd * C57BL/6	no abnormal phenotype detected	J:96106
Aph1a^tm1Pcw/Aph1a^tm1Pcw 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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