Mouse Genome Informatics
hm1
    Hephsla/Hephsla
B6.Cg-Hephsla
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
(J:6052)

homeostasis/metabolism
• total body iron is decreased (J:6052)

embryogenesis
• defect in placental iron transport; when iron is administered continuously in food of pregnant females, a significant reduction in iron transfer to mutant fetuses is observed (J:6052)


Mouse Genome Informatics
hm2
    Hephsla/Hephsla
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum (J:62112)

digestive/alimentary system
• increased iron loading in the mucosa of the proximal duodenum (J:62112)

Mouse Models of Human Disease
OMIM IDRef(s)
Hemochromatosis; HFE 235200 J:62112


Mouse Genome Informatics
hm3
    Hephsla/Hephsla
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
• reduction in hematopoietic tissue in both the liver and bone marrow (J:64261)
• red blood cell count is reduced to about 3/4 of the normal value (J:64261)
(J:128474)
• slight reduction in mean cell volume (J:128474)
• anemia is most severe at a young age and tends to diminish with increasing age (J:128474)
• iron-dextran injection resolves the anemia (J:128474)
• erythrocytes show great variation in size and form (J:128474)
• some cells are macrocytic (J:128474)
• many microcytic cells (J:128474)
• macrocytic cells with marked polychromasia (J:128474)


Mouse Genome Informatics
cx4
    Hephsla/Hephsla
Hfetm2Nca/Hfetm2Nca

involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum (J:62112)
• increased hepatic iron loading (J:62112)
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant (J:62112)

digestive/alimentary system
• increased iron loading in the mucosa of the proximal duodenum (J:62112)

liver/biliary system
• increased hepatic iron loading (J:62112)
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant (J:62112)


Mouse Genome Informatics
cx5
    Hephsla/Y
Hfetm2Nca/Hfetm2Nca

involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum (J:62112)
• increased hepatic iron loading (J:62112)
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant (J:62112)

digestive/alimentary system
• increased iron loading in the mucosa of the proximal duodenum (J:62112)

liver/biliary system
• increased hepatic iron loading (J:62112)
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant (J:62112)


Mouse Genome Informatics
cx6
    Cptm1Hrs/Cptm1Hrs
Hephsla/Y

involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype

Adult (6 month old) Cptm1Hrs/Cptm1Hrs Hephsla/Y retinal pigment epithelium and photoreceptors accumulate iron

homeostasis/metabolism
• retinas exhibit increased iron at 5-6 months of age, with highest levels in the RPE and photoreceptor outer segments (J:92620)
• levels of the cytosolic iron storage protein ferritin are increased in retinas (J:92620)

vision/eye
• choroidal thinning (J:92620)
• retinas exhibit increased iron at 5-6 months of age, with highest levels in the RPE and photoreceptor outer segments (J:92620)
• age dependent subretinal neovascularization (J:92620)
• local photoreceptor degeneration (J:92620)
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (J:92620)
• retinas of mutants surviving 6-9 months exhibit focal areas of hypopigmentation in the midperipheral retina (J:92620)
• age dependent retinal epithelium hyperplasia (J:92620)
• mutants surviving 6-9 months exhibit retinal degeneration (J:92620)

cardiovascular system
• age dependent subretinal neovascularization (J:92620)

nervous system
• local photoreceptor degeneration (J:92620)

pigmentation
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (J:92620)
• retinas of mutants surviving 6-9 months exhibit focal areas of hypopigmentation in the midperipheral retina (J:92620)
• age dependent retinal epithelium hyperplasia (J:92620)

Mouse Models of Human Disease
OMIM IDRef(s)
Aceruloplasminemia 604290 J:92620


Mouse Genome Informatics
ot7
    Hephsla/Y
B6.Cg-Hephsla
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism
• in the duodenum crypt cells of male mice, the amount of iron deposited after intravenous iron administration is greater than normal, either because of increased avidity or decreased return to plasma (J:5660)
• total body iron is decreased (J:6052)

hematopoietic system
(J:6052)

embryogenesis
• defect in placental iron transport; when iron is administered continuously in food of pregnant females, a significant reduction in iron transfer to mutant male fetuses is observed compared to transfer to heterozygous or wild-type male fetuses (J:6052)


Mouse Genome Informatics
ot8
    Hephsla/Y
involves: C57BL/6J * WB/Re
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
• red blood cell protoporphyrin levels are higher than in controls during the neonatal period, however they return to normal levels within 2 months of age (J:5985)

homeostasis/metabolism
• red blood cell protoporphyrin levels are higher than in controls during the neonatal period, however they return to normal levels within 2 months of age (J:5985)


Mouse Genome Informatics
ot9
    Hephsla/Y
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
• red blood counts are reduced to about 75% of the wild-type (J:128474)
• slight reduction in mean corpuscular hemoglobin (J:128474)
• slight reduction in mean cell volume (J:128474)
• anemia is most severe at a young age and tends to diminish with increasing age (J:128474)
• iron-dextran injection resolves the anemia (J:128474)
• erythrocytes show great variation in size and form (J:128474)
• some cells are macrocytic (J:128474)
• many microcytic cells (J:128474)
• macrocytic cells with marked polychromasia (J:128474)