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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hephsla
sex-linked anemia
MGI:1857042
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hephsla/Hephsla B6.Cg-Hephsla MGI:3768260
hm2
Hephsla/Hephsla involves: C57BL/6J MGI:2655515
hm3
Hephsla/Hephsla Not Specified MGI:3767204
ht4
Hephsla/Heph+ Not Specified MGI:5617525
cx5
Hephsla/Hephsla
Hfetm2Nca/Hfetm2Nca
involves: 129S6/SvEvTac * C57BL/6J MGI:2655486
cx6
Hephsla/Y
Hfetm2Nca/Hfetm2Nca
involves: 129S6/SvEvTac * C57BL/6J MGI:2655488
cx7
Cptm1Hrs/Cptm1Hrs
Hephsla/Hephsla
involves: 129X1/SvJ MGI:5490776
cx8
Cptm1Hrs/Cptm1Hrs
Hephsla/Y
involves: 129X1/SvJ * C57BL/6 MGI:3767200
ot9
Hephsla/Y B6.Cg-Hephsla MGI:3768252
ot10
Hephsla/Y involves: C57BL/6J * WB/Re MGI:3767058
ot11
Hephsla/Y Not Specified MGI:3770031


Genotype
MGI:3768260
hm1
Allelic
Composition
Hephsla/Hephsla
Genetic
Background
B6.Cg-Hephsla
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
(J:6052)
(J:6052)

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




Genotype
MGI:2655515
hm2
Allelic
Composition
Hephsla/Hephsla
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum (J:62112)
• 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)
• increased iron loading in the mucosa of the proximal duodenum (J:62112)




Genotype
MGI:3767204
hm3
Allelic
Composition
Hephsla/Hephsla
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• reduction in hematopoietic tissue in both the liver and bone marrow (J:64261)
• reduction in hematopoietic tissue in both the liver and bone marrow (J:64261)
• 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)
• 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)
• red blood cell count is reduced to about 3/4 of the normal value (J:64261)
• red blood cell count is reduced to about 3/4 of the normal value (J:64261)
(J:128474)
(J:128474)
(J:128474)
(J:128474)
(J:128474)
(J:128474)
• slight reduction (J:64261)
• slight reduction (J:64261)
• slight reduction in mean cell volume (J:128474)
• slight reduction in mean cell volume (J:128474)
• erythrocytes show great variation in size and form (J:128474)
• erythrocytes show great variation in size and form (J:128474)
• some cells are macrocytic (J:128474)
• some cells are macrocytic (J:128474)
• many microcytic cells (J:128474)
• many microcytic cells (J:128474)
• macrocytic cells with marked polychromasia (J:128474)
• macrocytic cells with marked polychromasia (J:128474)




Genotype
MGI:5617525
ht4
Allelic
Composition
Hephsla/Heph+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• the haematology of ten heterozygous females, compared with normal Heph+/Y littermates, is normal (J:155791)
• the haematology of ten heterozygous females, compared with normal Heph+/Y littermates, is normal (J:155791)

normal phenotype




Genotype
MGI:2655486
cx5
Allelic
Composition
Hephsla/Hephsla
Hfetm2Nca/Hfetm2Nca
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
Hfetm2Nca mutation (1 available); any Hfe mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum (J:62112)
• 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)
• 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)
• 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)
• increased hepatic iron loading (J:62112)
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant (J:62112)




Genotype
MGI:2655488
cx6
Allelic
Composition
Hephsla/Y
Hfetm2Nca/Hfetm2Nca
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
Hfetm2Nca mutation (1 available); any Hfe mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron loading in the mucosa of the proximal duodenum (J:62112)
• 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)
• 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)
• 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)
• increased hepatic iron loading (J:62112)
• less hepatic iron loading than than the single Hfetm2Nca homozygous mutant (J:62112)




Genotype
MGI:5490776
cx7
Allelic
Composition
Cptm1Hrs/Cptm1Hrs
Hephsla/Hephsla
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cptm1Hrs mutation (1 available); any Cp mutation (4 available)
Hephsla mutation (1 available); any Heph mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased iron accumulation in the retinal pigment epithelium (J:196540)
• increased iron accumulation in the retinal pigment epithelium (J:196540)

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

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




Genotype
MGI:3767200
cx8
Allelic
Composition
Cptm1Hrs/Cptm1Hrs
Hephsla/Y
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cptm1Hrs mutation (1 available); any Cp mutation (4 available)
Hephsla mutation (1 available); any Heph mutation (4 available)
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)
• 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)
• iron accumulation in the retina and ciliary body (J:136925)

vision/eye
• subretinal macrophage infiltration is seen by 9 months of age (J:136925)
• 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)
• 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)
• 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)
• 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)
• age dependent subretinal neovascularization (J:92620)
(J:136925)
(J:136925)
• local photoreceptor degeneration (J:92620)
• local photoreceptor degeneration (J:92620)
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (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)
• 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)
• 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)
• age dependent retinal epithelium hyperplasia (J:92620)
(J:136925)
(J:136925)
• mutants surviving 6-9 months exhibit retinal degeneration (J:92620)
• 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)
• 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)
• choroidal thinning (J:92620)
• 9-month old mutants show activated complement in Bruch's membrane (J:136925)
• 9-month old mutants show activated complement in Bruch's membrane (J:136925)

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

nervous system
• local photoreceptor degeneration (J:92620)
• local photoreceptor degeneration (J:92620)

pigmentation
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (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)
• 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)
• 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)
• age dependent retinal epithelium hyperplasia (J:92620)
(J:136925)
(J:136925)

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




Genotype
MGI:3768252
ot9
Allelic
Composition
Hephsla/Y
Genetic
Background
B6.Cg-Hephsla
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
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 (J:5660)
• 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)
• total body iron is decreased (J:6052)

hematopoietic system
(J:6052)
(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)
• 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)




Genotype
MGI:3767058
ot10
Allelic
Composition
Hephsla/Y
Genetic
Background
involves: C57BL/6J * WB/Re
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
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 (J:5985)
• 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)
• 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)




Genotype
MGI:3770031
ot11
Allelic
Composition
Hephsla/Y
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hephsla mutation (1 available); any Heph mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• 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)
• 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)
• red blood counts are reduced to about 75% of the wild-type (J:128474)
• red blood counts are reduced to about 75% of the wild-type (J:128474)
(J:128474)
(J:128474)
(J:128474)
(J:128474)
• slight reduction in mean corpuscular hemoglobin (J:128474)
• slight reduction in mean corpuscular hemoglobin (J:128474)
• slight reduction in mean cell volume (J:128474)
• slight reduction in mean cell volume (J:128474)
• erythrocytes show great variation in size and form (J:128474)
• erythrocytes show great variation in size and form (J:128474)
• some cells are macrocytic (J:128474)
• some cells are macrocytic (J:128474)
• many microcytic cells (J:128474)
• many microcytic cells (J:128474)
• macrocytic cells with marked polychromasia (J:128474)
• macrocytic cells with marked polychromasia (J:128474)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory