Heph Phenotype Annotations - Multigenic Genotypes

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Heph
hephaestin
MGI:1332240

21 phenotypes from multigenic genotypes

Allelic Composition Genetic Background	Annotated Term	Reference
Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/Y involves: 129X1/SvJ * C57BL/6	abnormal Bruch membrane morphology	J:136925
	abnormal ciliary epithelium morphology	J:136925
	abnormal iron level	J:92620, J:136925
	abnormal optic choroid morphology	J:92620
	abnormal retina morphology	J:92620, J:136925
	abnormal retina pigment epithelium morphology	J:92620, J:136925
	abnormal retina pigmentation	J:92620
	eye inflammation	J:136925
	increased susceptibility to age-related retinal degeneration	J:136925
	retina degeneration	J:92620
	retina neovascularization	J:92620, J:136925
	retina photoreceptor degeneration	J:92620
	retina pigment epithelium hyperplasia	J:92620, J:136925
Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/Heph^sla involves: 129X1/SvJ	abnormal iron level	J:196540
	abnormal retina pigment epithelium morphology	J:196540
	decreased circulating iron level	J:196540
Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0 involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	abnormal iron level	J:196540
	abnormal retina pigment epithelium morphology	J:196540
	retina pigment epithelium atrophy	J:196540
Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0 Tg(Rho-cre)#Yzl/0 involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	abnormal iron level	J:196540
	abnormal protein level	J:196540
Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(Rho-cre)#Yzl/0 involves: 129X1/SvJ * C57BL/6NTac	normal homeostasis/metabolism phenotype	J:196540
Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.2Jdun/Heph^tm1.2Jdun involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	abnormal iron level	J:196540
	anemia	J:196540
	neurodegeneration	J:196540
Heph^sla/Heph^sla Hfe^tm2Nca/Hfe^tm2Nca involves: 129S6/SvEvTac * C57BL/6J	increased intestinal iron level	J:62112
	increased liver iron level	J:62112
Heph^sla/Y Hfe^tm2Nca/Hfe^tm2Nca involves: 129S6/SvEvTac * C57BL/6J	increased intestinal iron level	J:62112
	increased liver iron level	J:62112

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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