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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Ece1
endothelin converting enzyme 1
MGI:1101357
49 phenotypes from 1 allele in 4 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Ece1tm1Reh/Ece1tm1Reh
involves: 129S6/SvEvTac
embryonic lethality during organogenesis, incomplete penetrance J:46640
Ece1tm1Reh/Ece1tm1Reh
involves: 129S6/SvEvTac * C57BL/6
abnormal choroid melanocyte morphology J:46640
abnormal epidermal melanocyte morphology J:46640
abnormal Harderian gland pigmentation J:46640
abnormal skeleton morphology J:46640
abnormal styloid process morphology J:46640
abnormal submandibular duct morphology J:46640
abnormal temporal bone squamous part morphology J:46640
abnormal vasodilation J:46640
absent enteric neurons J:46640
absent external auditory canal J:46640
absent incus J:46640
absent malleus J:46640
absent Meckel's cartilage J:46640
absent middle ear ossicles J:46640
absent right subclavian artery J:46640
absent stapes J:46640
absent sublingual duct J:46640
absent tongue J:46640
absent tympanic ring J:46640
alisphenoid bone hypoplasia J:46640
atrioventricular cushion hypoplasia J:46640
double outlet right ventricle J:46640
embryonic lethality during organogenesis, incomplete penetrance J:46640
enlarged heart J:46640
hydrops fetalis J:46640
interrupted aortic arch J:46640
neonatal lethality, complete penetrance J:46640
overriding aortic valve J:46640
palatine bone hypoplasia J:46640
parathyroid hypoplasia J:46640
pericardial effusion J:46640
persistent cervical thymus J:46640
small mandible J:46640
temporal bone squamous part hypoplasia J:46640
thyroid gland hypoplasia J:46640
ventricular septal defect J:46640
Ece1tm1Reh/Ece1tm1Reh
involves: 129S6/SvEvTac * C57BL/6 * CBA
aberrant origin of the right subclavian artery J:48566
abnormal artery morphology J:48566
abnormal ascending aorta morphology J:48566
abnormal fourth pharyngeal arch artery morphology J:48566
abnormal sixth pharyngeal arch artery morphology J:48566
abnormal third pharyngeal arch artery morphology J:48566
double aortic arch J:48566
double outlet right ventricle J:48566
overriding aortic valve J:48566
persistent ductus caroticus J:48566
persistent right 6th pharyngeal arch artery J:48566
persistent right dorsal aorta J:48566
persistent truncus arteriosus J:48566
Ece1tm1Reh/Ece1tm1Reh
involves: 129S6/SvEvTac * C57BL/6J
abnormal heart and great artery attachment J:62261
double outlet right ventricle J:62261
overriding aortic valve J:62261
perimembraneous ventricular septal defect J:62261
persistent truncus arteriosus J:62261

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
11/12/2024
MGI 6.24
The Jackson Laboratory