| Type |
Details |
Score |
| Genotype |
| Symbol: |
Hfe/? Hfem4/Hfem4 |
| Background: |
involves: 129P2/OlaHsd * C57BL/6 * DBA/2 |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 1, Susan Gilfillan |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 1, William S Sly |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 1.1, Nancy C Andrews |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence, Hypomorph |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 2, Nancy C Andrews |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 2, William S Sly |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 3, William S Sly |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 1, Wolfgang Stremmel |
| Allele Type: |
Targeted |
| Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 1.1, Wolfgang Stremmel |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
homeostatic iron regulator; targeted mutation 1.1, Susan Gilfillan |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129S6/SvEvTac |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
Not Specified |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129S6/SvEvTac * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129S6/SvEvTac * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129S6/SvEvTac |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
Not Specified |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129X1/SvJ * C57BL/6J |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129X1/SvJ * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129X1/SvJ * C57BL/6J |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129X1/SvJ * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129P2/OlaHsd * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe Tg(Vil1-cre)997Gum/? |
| Background: |
involves: 129P2/OlaHsd * C57BL/6 * SJL |
| Zygosity: |
cn |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
involves: 129P2/OlaHsd * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe |
| Background: |
B6.129P2-Hfe |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 1, Nancy C Andrews |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE7357 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
| GO Term |
|
•
•
•
•
•
|
| Allele |
| Name: |
transferrin receptor; targeted mutation 2, Nancy C Andrews |
| Allele Type: |
Targeted |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pritchard JE |
| Year: |
2024 |
| Journal: |
Cell Rep |
| Title: |
Non-canonical Hedgehog signaling mediates profibrotic hematopoiesis-stroma crosstalk in myeloproliferative neoplasms. |
| Volume: |
43 |
| Issue: |
1 |
| Pages: |
113608 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Leimkühler NB |
| Year: |
2021 |
| Journal: |
Cell Stem Cell |
| Title: |
Heterogeneous bone-marrow stromal progenitors drive myelofibrosis via a druggable alarmin axis. |
| Volume: |
28 |
| Issue: |
4 |
| Pages: |
637-652.e8 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tfrc/Tfrc |
| Background: |
involves: 129S4/SvJae * FVB/N |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hfe/Hfe Tg(Ttr-Hfe)1Nca/? |
| Background: |
involves: 129S6/SvEvTac * C57BL/6 |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Babitt JL |
| Year: |
2006 |
| Journal: |
Nat Genet |
| Title: |
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. |
| Volume: |
38 |
| Issue: |
5 |
| Pages: |
531-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Papanikolaou G |
| Year: |
2004 |
| Journal: |
Nat Genet |
| Title: |
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. |
| Volume: |
36 |
| Issue: |
1 |
| Pages: |
77-82 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
D'Alessio F |
| Year: |
2012 |
| Journal: |
J Hepatol |
| Title: |
The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. |
| Volume: |
57 |
| Issue: |
5 |
| Pages: |
1052-60 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Hemojuvelin, also called repulsive guidance molecule C or Hfe2, is a GPI-linked membrane protein essential for iron homeostasis []. Hemojuvelin is a bone morphogenetic protein (BMP) coreceptor; it regulates iron homeostasis by interacting with BMP ligands to induce hepcidin expression []. It forms a membrane-associated protein complex with HFE and the transferrin receptor 2 for hepcidin regulation []. |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Braud VM |
| Year: |
1999 |
| Journal: |
Curr Opin Immunol |
| Title: |
Functions of nonclassical MHC and non-MHC-encoded class I molecules. |
| Volume: |
11 |
| Issue: |
1 |
| Pages: |
100-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Levy JE |
| Year: |
1998 |
| Journal: |
MGI Direct Data Submission |
| Title: |
The Transferrin Receptor (Trfr) maps to mouse Chromosome 16 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nicolas G |
| Year: |
2001 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. |
| Volume: |
98 |
| Issue: |
15 |
| Pages: |
8780-5 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Riegert P |
| Year: |
1998 |
| Journal: |
J Immunol |
| Title: |
Genomics, isoforms, expression, and phylogeny of the MHC class I-related MR1 gene. |
| Volume: |
161 |
| Issue: |
8 |
| Pages: |
4066-77 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dunaief JL |
| Year: |
2006 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
Iron induced oxidative damage as a potential factor in age-related macular degeneration: the Cogan Lecture. |
| Volume: |
47 |
| Issue: |
11 |
| Pages: |
4660-4 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Santos MM |
| Year: |
2000 |
| Journal: |
Am J Pathol |
| Title: |
Iron overload and heart fibrosis in mice deficient for both beta2-microglobulin and Rag1. |
| Volume: |
157 |
| Issue: |
6 |
| Pages: |
1883-92 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sproule TJ |
| Year: |
2001 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice. |
| Volume: |
98 |
| Issue: |
9 |
| Pages: |
5170-4 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
McDonald CJ |
| Year: |
2011 |
| Journal: |
Am J Physiol Gastrointest Liver Physiol |
| Title: |
Iron loading and oxidative stress in the Atm-/- mouse liver. |
| Volume: |
300 |
| Issue: |
4 |
| Pages: |
G554-60 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fleming RE |
| Year: |
2002 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. |
| Volume: |
99 |
| Issue: |
16 |
| Pages: |
10653-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wallace DF |
| Year: |
2005 |
| Journal: |
Gut |
| Title: |
First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. |
| Volume: |
54 |
| Issue: |
7 |
| Pages: |
980-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Giffon T |
| Year: |
1996 |
| Journal: |
Immunogenetics |
| Title: |
Cloning of a human homologue of the mouse Tctex-5 gene within the MHC class I region. |
| Volume: |
44 |
| Issue: |
5 |
| Pages: |
331-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Meyer PN |
| Year: |
2002 |
| Journal: |
Blood Cells Mol Dis |
| Title: |
Hemochromatosis protein (HFE) and tumor necrosis factor receptor 2 (TNFR2) influence tissue iron levels: elements of a common gut pathway? |
| Volume: |
29 |
| Issue: |
3 |
| Pages: |
274-85 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rishi G |
| Year: |
2020 |
| Journal: |
Biosci Rep |
| Title: |
Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression. |
| Volume: |
40 |
| Issue: |
8 |
|
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
420
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Santos M |
| Year: |
1998 |
| Journal: |
Blood |
| Title: |
Adaptive response of iron absorption to anemia, increased erythropoiesis, iron deficiency, and iron loading in beta2-microglobulin knockout mice. |
| Volume: |
91 |
| Issue: |
8 |
| Pages: |
3059-65 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wang CY |
| Year: |
2020 |
| Journal: |
Blood |
| Title: |
Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3. |
| Volume: |
135 |
| Issue: |
6 |
| Pages: |
453-456 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Josson S |
| Year: |
2013 |
| Journal: |
PLoS One |
| Title: |
Inhibition of β2-microglobulin/hemochromatosis enhances radiation sensitivity by induction of iron overload in prostate cancer cells. |
| Volume: |
8 |
| Issue: |
7 |
| Pages: |
e68366 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gnana-Prakasam JP |
| Year: |
2012 |
| Journal: |
Biochem J |
| Title: |
Iron-mediated retinal degeneration in haemojuvelin-knockout mice. |
| Volume: |
441 |
| Issue: |
2 |
| Pages: |
599-608 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Delaby C |
| Year: |
2013 |
| Journal: |
Mamm Genome |
| Title: |
Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice. |
| Volume: |
24 |
| Issue: |
11-12 |
| Pages: |
427-38 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lee PL |
| Year: |
1998 |
| Journal: |
Blood Cells Mol Dis |
| Title: |
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. |
| Volume: |
24 |
| Issue: |
2 |
| Pages: |
199-215 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|