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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 (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system

homeostasis/metabolism
• total body iron is decreased

embryo
• 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




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 (8 available)
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




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 (8 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
• anemia is most severe at a young age and tends to diminish with increasing age
• iron-dextran injection resolves the anemia
• 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




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 (8 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

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 (8 available)
Hfetm2Nca mutation (1 available); any Hfe mutation (12 available)
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




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 (8 available)
Hfetm2Nca mutation (1 available); any Hfe mutation (12 available)
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




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 (28 available)
Hephsla mutation (1 available); any Heph mutation (8 available)
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




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 (28 available)
Hephsla mutation (1 available); any Heph mutation (8 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)
• 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




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 (8 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
• total body iron is decreased

hematopoietic system

embryo
• 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




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 (8 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

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




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 (8 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
• iron-dextran injection resolves the anemia
• 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





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory