|
Allele Symbol Allele Name Allele ID |
Hephsla sex-linked anemia MGI:1857042 |
||||||||||||||||||||||||||||||||||||||||||||||||
| Summary |
11 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• total body iron is decreased
|
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• increased iron loading in the mucosa of the proximal duodenum
|
|
|
• increased iron loading in the mucosa of the proximal duodenum
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 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
|
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
N |
• the haematology of ten heterozygous females, compared with normal Heph+/Y littermates, is normal
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 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
|
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• 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
|
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• increased iron accumulation in the retinal pigment epithelium
|
|
|
• retinal pigment epithelium cells are auto-fluorescent
|
|
|
• retinal pigment epithelium cells are auto-fluorescent
|
|
|
| ♀ | 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
|
|
• 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)
|
|
|
• 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)
|
|
|
• 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
• 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
|
|
|
• mutants surviving 6-9 months exhibit retinal degeneration
|
|
|
• choroidal thinning
|
|
|
• 9-month old mutants show activated complement in Bruch's membrane
|
|
|
• 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)
|
|
|
• subretinal macrophage infiltration is seen by 9 months of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| aceruloplasminemia | DOID:0050711 |
OMIM:604290 |
J:92620 | |
| age related macular degeneration 1 | DOID:0110014 |
OMIM:603075 |
J:136925 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 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
|
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 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
|
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 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
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||
Analysis Tools