Hectd1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Hectd1
HECT domain E3 ubiquitin protein ligase 1
MGI:2384768

31 phenotypes from 4 alleles in 7 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Hectd1^b2b327Clo/Hectd1^b2b327Clo C57BL/6J-Hectd1^b2b327Clo	abnormal aorta morphology	J:175213
	abnormal pulmonary valve morphology	J:175213
	abnormal semilunar valve morphology	J:175213
	aorta hypoplasia	J:175213
	ascending aorta hypoplasia	J:175213
	coronary fistula	J:175213
	muscular ventricular septal defect	J:175213
	overriding aortic valve	J:175213
	perimembraneous ventricular septal defect	J:175213
Hectd1^Gt(XC266)Byg/Hectd1⁺ involves: 129P2/OlaHsd	exencephaly	J:122594
Hectd1^Gt(XC266)Byg/Hectd1^Gt(XC266)Byg involves: 129P2/OlaHsd	abnormal craniofacial development	J:122594
	abnormal embryonic tissue morphology	J:122594
	abnormal eye distance/ position	J:122594
	abnormal eye morphology	J:122594
	abnormal frontal bone morphology	J:122594
	abnormal neural fold elevation formation	J:122594
	abnormal neurocranium morphology	J:122594
	abnormal parietal bone morphology	J:122594
	absent exoccipital bone	J:122594
	absent interparietal bone	J:122594
	absent temporal bone petrous part	J:122594
	exencephaly	J:122594
	microphthalmia	J:122594
Hectd1^Gt(XC266)Byg/Hectd1^opm involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6	exencephaly	J:122594
Hectd1^opm/Hectd1⁺ C3.B6-Hectd1^opm	exencephaly	J:122594
Hectd1^opm/Hectd1^opm C3.B6-Hectd1^opm	abnormal craniofacial development	J:122594
	abnormal eye distance/ position	J:122594
	abnormal eye morphology	J:122594
	abnormal frontal bone morphology	J:122594
	abnormal head mesenchyme morphology	J:122594
	abnormal neural fold elevation formation	J:122594
	abnormal neurocranium morphology	J:122594
	abnormal parietal bone morphology	J:122594
	absent exoccipital bone	J:122594
	absent interparietal bone	J:122594
	absent temporal bone petrous part	J:122594
	exencephaly	J:122594
	microphthalmia	J:122594
	normal nervous system phenotype	J:122594
Hectd1^opm/Hectd1^opm involves: C3H/HeJ * C57BL/6J	abnormal mesenchyme morphology	J:48268
Hectd1^opm/Hectd1^opm involves: C3H/HeJ * C57BL/6J	exencephaly	J:48268
Hectd1^opm/Hectd1^opm involves: C3HeB/FeJ * C57BL/6J	exencephaly	J:98216
Hectd1^opm/Hectd1^opm involves: C3HeB/FeJ * C57BL/6J	perinatal lethality, complete penetrance	J:98216
Hectd1^{tm1b(EUCOMM)Hmgu}/Hectd1⁺ C57BL/6N-Hectd1^{tm1b(EUCOMM)Hmgu}/Nju	abnormal coat/hair pigmentation	J:211773
	decreased circulating alkaline phosphatase level	J:211773
	increased basophil cell number	J:211773
	increased circulating calcium level	J:211773
	increased eosinophil cell number	J:211773

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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