Mouse Genome Informatics
hm1
    Hephsla/Hephsla
B6.Cg-Hephsla
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system

homeostasis/metabolism
• total body iron is decreased

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


Mouse Genome Informatics
hm2
    Hephsla/Hephsla
involves: C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum

digestive/alimentary system
• increased iron loading in the mucosa of the proximal duodenum


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


Mouse Genome Informatics
cx4
    Hephsla/Hephsla
Hfetm2Nca/Hfetm2Nca

involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum
• increased hepatic iron loading
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant

digestive/alimentary system
• increased iron loading in the mucosa of the proximal duodenum

liver/biliary system
• increased hepatic iron loading
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant


Mouse Genome Informatics
cx5
    Hephsla/Y
Hfetm2Nca/Hfetm2Nca

involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum
• increased hepatic iron loading
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant

digestive/alimentary system
• increased iron loading in the mucosa of the proximal duodenum

liver/biliary system
• increased hepatic iron loading
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant


Mouse Genome Informatics
cx6
    Cptm1Hrs/Cptm1Hrs
Hephsla/Hephsla

involves: 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron accumulation in the retinal pigment epithelium

vision/eye
• retinal pigment epithelium cells are auto-fluorescent

pigmentation
• retinal pigment epithelium cells are auto-fluorescent


Mouse Genome Informatics
cx7
    Cptm1Hrs/Cptm1Hrs
Hephsla/Y

involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
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
• iron accumulation in the nonpigmented ciliary epithelium of the ciliary body at 7 months of age
• levels of ferritin light chain (L-ferritin) are increased in the nonpigmented ciliary epithelium of 7 month old mutants
• 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
• 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
• 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
• 9-month old mutants show activated complement in Bruch's membrane

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

nervous system
• local photoreceptor degeneration

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
• age dependent retinal epithelium hyperplasia (J:92620)
(J:136925)

immune system
• subretinal macrophage infiltration is seen by 9 months of age


Mouse Genome Informatics
ot8
    Hephsla/Y
B6.Cg-Hephsla
Key:
phenotype observed in females
phenotype observed in males
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
• total body iron is decreased

hematopoietic system

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


Mouse Genome Informatics
ot9
    Hephsla/Y
involves: C57BL/6J * WB/Re
Key:
phenotype observed in females
phenotype observed in males
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

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


Mouse Genome Informatics
ot10
    Hephsla/Y
Not Specified
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• red blood counts are reduced to about 75% of the wild-type
• slight reduction in mean corpuscular hemoglobin
• slight reduction in mean cell volume
• erythrocytes show great variation in size and form
• some cells are macrocytic
• many microcytic cells
• macrocytic cells with marked polychromasia
• anemia is most severe at a young age and tends to diminish with increasing age
• iron-dextran injection resolves the anemia