Mouse Genome Informatics
hm1
    Hephsla/Hephsla
B6.Cg-Hephsla
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh 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 EuPh 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 Genome Informatics
hm3
    Hephsla/Hephsla
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh 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)
• 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)
• 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)


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 EuPh 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 EuPh 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/Hephsla

involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• increased iron accumulation in the retinal pigment epithelium (J:196540)

vision/eye
• retinal pigment epithelium cells are auto-fluorescent (J:196540)

pigmentation
• retinal pigment epithelium cells are auto-fluorescent (J:196540)


Mouse Genome Informatics
cx7
    Cptm1Hrs/Cptm1Hrs
Hephsla/Y

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

Accumulation of of iron in Cptm1Hrs/Cptm1Hrs Hephsla/Y retinal pigment epithelium and photoreceptors

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)
• iron accumulation in the retina and ciliary body (J:136925)

vision/eye
• subretinal macrophage infiltration is seen by 9 months of age (J:136925)
• iron accumulation in the nonpigmented ciliary epithelium of the ciliary body at 7 months of age (J:136925)
• levels of ferritin light chain (L-ferritin) are increased in the nonpigmented ciliary epithelium of 7 month old mutants (J:136925)
• retinas exhibit increased iron at 5-6 months of age, with highest levels in the RPE and photoreceptor outer segments (J:92620)
• neurosensory retinas (without the RPE) have higher iron levels at 3 and 6 months of age than wild-type mice (J:136925)
• levels of transferrin receptor are undetectable in the retina except for a thin layer near the junction of photoreceptor inner and outer segments (J:136925)
• levels of isoprostane F2alpha-VI are increased in 6 month old retinas, indicating oxidative stress (J:136925)
• age dependent subretinal neovascularization (J:92620)
(J:136925)
• local photoreceptor degeneration (J:92620)
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (J:92620)
• iron accumulation in the retinal pigment epithelium (RPE) in 3 and 6 month old mutants (J:136925)
• accumulation of lipofuscin-like material in the retinal pigment epithelium with age (J:136925)
• 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)
(J:136925)
• mutants surviving 6-9 months exhibit retinal degeneration (J:92620)
• age-dependent retinal degeneration with neovascularization that is first visible at 7 months of age; degeneration consists of RPE hyperplasia, RPE hypertrophy, and focal photoreceptor degeneration characterized by thinning of the ONL, inner segment vacuolization, and loss of outer segments (J:136925)
• by 12-13 months of age, hypertrophic RPE cells are seen in 90% of the total retinal length, loss of inner and outer segments, thinning of the ONL, and subretinal macrophage infiltration, focal areas of neovascularization (J:136925)
• choroidal thinning (J:92620)
• 9-month old mutants show activated complement in Bruch's membrane (J:136925)

cardiovascular system
• age dependent subretinal neovascularization (J:92620)
(J:136925)

nervous system
• local photoreceptor degeneration (J:92620)

pigmentation
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (J:92620)
• iron accumulation in the retinal pigment epithelium (RPE) in 3 and 6 month old mutants (J:136925)
• accumulation of lipofuscin-like material in the retinal pigment epithelium with age (J:136925)
• 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)
(J:136925)

immune system
• subretinal macrophage infiltration is seen by 9 months of age (J:136925)


Mouse Genome Informatics
ot8
    Hephsla/Y
B6.Cg-Hephsla
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh 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
ot9
    Hephsla/Y
involves: C57BL/6J * WB/Re
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh 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
ot10
    Hephsla/Y
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh 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)
• 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)
• 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)