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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Heph
hephaestin
MGI:1332240
30 phenotypes from 5 alleles in 8 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Hephem1(IMPC)Ccpcz/Y
C57BL/6NCrl-Hephem1(IMPC)Ccpcz/Ccpcz 		abnormal heart morphology J:211773
abnormal lymph node morphology J:211773
enlarged heart J:211773
enlarged lymph nodes J:211773
increased circulating iron level J:211773
Hephem1(IMPC)Ccpcz/Hephem1(IMPC)Ccpcz
C57BL/6NCrl-Hephem1(IMPC)Ccpcz/Ccpcz 		abnormal lymph node morphology J:211773
enlarged lymph nodes J:211773
increased circulating aspartate transaminase level J:211773
increased circulating iron level J:211773
increased circulating phosphate level J:211773
Hephsla/Y
B6.Cg-Hephsla 		abnormal iron homeostasis J:5660
abnormal iron level J:6052
abnormal placental transport J:6052
anemia J:6052
decreased hemoglobin content J:6052
Hephsla/Y
involves: C57BL/6J * WB/Re 		increased erythrocyte protoporphyrin level J:5985
Hephsla/Y
Not Specified 		anisopoikilocytosis J:128474
decreased erythrocyte cell number J:128474
decreased hematocrit J:128474
decreased hemoglobin content J:128474
decreased mean corpuscular hemoglobin J:128474
decreased mean corpuscular volume J:128474
hypochromic anemia J:128474
macrocytosis J:128474
microcytosis J:128474
polychromatophilia J:128474
Hephsla/Heph+
Not Specified 		normal hematopoietic system phenotype J:155791
no abnormal phenotype detected J:155791
Hephsla/Hephsla
B6.Cg-Hephsla 		abnormal iron level J:6052
abnormal placental transport J:6052
anemia J:6052
decreased hemoglobin content J:6052
HephSla/HephSla
involves: BALB/c * C3H 		anemia J:63816
Hephsla/Hephsla
involves: C57BL/6J 		increased intestinal iron level J:62112
Hephsla/Hephsla
Not Specified 		abnormal definitive hematopoiesis J:64261
abnormal erythrocyte morphology J:64261
anisopoikilocytosis J:128474
decreased erythrocyte cell number J:64261, J:128474
decreased hematocrit J:128474
decreased hemoglobin content J:128474
decreased mean corpuscular hemoglobin J:128474
decreased mean corpuscular hemoglobin concentration J:64261
decreased mean corpuscular volume J:128474
hypochromic anemia J:128474
macrocytosis J:128474
microcytosis J:128474
polychromatophilia J:128474
Hephtm1.1Jdun/Hephtm1.1Jdun
Tg(BEST1-cre)1Jdun/0
involves: C57BL/6 * C57BL/6NTac 		normal homeostasis/metabolism phenotype J:196540
Hephtm1.1Jdun/Hephtm1.1Jdun
Tg(Rho-cre)#Yzl/0
involves: C57BL/6NTac 		normal homeostasis/metabolism phenotype J:196540
Hephtm1.2Jdun/Hephtm1.2Jdun
involves: C57BL/6 * C57BL/6NTac 		abnormal coat/ hair morphology J:196540
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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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory