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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc48a1em1Ih
endonuclease-mediated mutation 1, Iqbal Hamza
MGI:6711492
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc48a1em1Ih/Slc48a1em1Ih involves: 129 * C57BL/6J MGI:6712290
cx2
Hmox1tm1Poss/Hmox1tm1Poss
Slc48a1em1Ih/Slc48a1em1Ih
involves: 129 * 129S2/SvPas * C57BL/6J MGI:6712291
cx3
Hmox1tm1Poss/Hmox1+
Slc48a1em1Ih/Slc48a1em1Ih
involves: 129 * 129S2/SvPas * C57BL/6J MGI:6712292


Genotype
MGI:6712290
hm1
Allelic
Composition
Slc48a1em1Ih/Slc48a1em1Ih
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc48a1em1Ih mutation (0 available); any Slc48a1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• when fed a low-iron (1.8 to 2 ppm Fe) diet a significant number of mice die with 20 weeks, wild-type mice on the same diet survive

hematopoietic system
• iron-deficient diet induced stress-erythropoesis is attenuated compared to diet matched wild-type controls with erythroblast differentiation blocked at the population I stage in the bone marrow
• increase in immature erythroid precursor cells (population II+III) in the spleen, suggesting compensatory erythropoiesis in the spleen
• become severely anemic on a low iron diet by 20 weeks
• decrease in the total number of Ter-119+ cells and increase in the number of basophilic erythroblasts in the bone marrow indicating impaired erythroid maturation
• in the bone marrow
• decreased on a normal chow diet
• after 8 weeks on a low iron diet, hematocrits are significantly lower
• macrophages have higher concentrations of cellular iron, copper, sulfur, and calcium
• decrease in the number of reticuloendothelial macrophages
• iron-deficient diet restores the number of mature reticuloendothelial macrophages and balance in monocyte populations to wild-type levels
• darkened spleen with dark intracellular pigments
• dark, pigmented inclusions are present
• increase in iron due to the accumulation of heme
• tissue-resident macrophages in the bone-marrow, spleen, and liver accumulate hemozoin crystals in enlarged lysozymes
• when macrophages are forced to undergo apoptosis the hemozoin crystals are extruded into the interstitial space but do not appear to be bioavailable
• cells accumulate more heme during erythrophagocytosis but show reduced reactive oxygen species and ratio of oxidized to reduced glutathione levels and appear to have increased heme tolerance

homeostasis/metabolism
• significantly elevated serum ferritin
• after 5 weeks on an iron-deficient diet serum ferritin levels remain elevated
• macrophages have higher concentrations of cellular iron, copper, sulfur, and calcium
• macrophages have higher concentrations of cellular iron, copper, sulfur, and calcium
• increase in iron in the bone marrow due to the accumulation of heme
• macrophages have higher concentrations of cellular iron, copper, sulfur, and calcium
• increase in iron due to the accumulation of heme
• increase in iron due to the accumulation of heme
• macrophages have higher concentrations of cellular iron, copper, sulfur, and calcium

liver/biliary system
• darkened liver with dark intracellular pigments
• dark, pigmented inclusions are present
• increase in iron due to the accumulation of heme

skeleton
• darkened bone marrow with dark intracellular pigments
• dark, pigmented inclusions are present

growth/size/body

immune system
• macrophages have higher concentrations of cellular iron, copper, sulfur, and calcium
• decrease in the number of reticuloendothelial macrophages
• iron-deficient diet restores the number of mature reticuloendothelial macrophages and balance in monocyte populations to wild-type levels
• darkened spleen with dark intracellular pigments
• dark, pigmented inclusions are present
• increase in iron due to the accumulation of heme
• tissue-resident macrophages in the bone-marrow, spleen, and liver accumulate hemozoin crystals in enlarged lysozymes
• when macrophages are forced to undergo apoptosis the hemozoin crystals are extruded into the interstitial space but do not appear to be bioavailable
• cells accumulate more heme during erythrophagocytosis but show reduced reactive oxygen species and ratio of oxidized to reduced glutathione levels and appear to have increased heme tolerance




Genotype
MGI:6712291
cx2
Allelic
Composition
Hmox1tm1Poss/Hmox1tm1Poss
Slc48a1em1Ih/Slc48a1em1Ih
Genetic
Background
involves: 129 * 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmox1tm1Poss mutation (1 available); any Hmox1 mutation (35 available)
Slc48a1em1Ih mutation (0 available); any Slc48a1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected viable homozygous mice

hematopoietic system
• develop anemia with age
• decrease in the number of reticuloendothelial macrophages

immune system
• decrease in the number of reticuloendothelial macrophages




Genotype
MGI:6712292
cx3
Allelic
Composition
Hmox1tm1Poss/Hmox1+
Slc48a1em1Ih/Slc48a1em1Ih
Genetic
Background
involves: 129 * 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmox1tm1Poss mutation (1 available); any Hmox1 mutation (35 available)
Slc48a1em1Ih mutation (0 available); any Slc48a1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• decreased ratio of Hmox1 heterozygous, Slc48a1 homozygous offspring at birth indicating an almost 40% prenatal lethality

hematopoietic system
• decrease in the total number of Ter-119+ cells in the bone marrow and spleen
• reduction in total Ter-119+ cells is increased compared to mice wild-type for Slc48a1
• increase in immature erythroid precursor cells (population II+III) in the spleen
• decrease in the number of reticuloendothelial macrophages
• reduction in splenic reticuloendothelial macrophages is increased compared to mice wild-type for Slc48a1

immune system
• decrease in the number of reticuloendothelial macrophages
• reduction in splenic reticuloendothelial macrophages is increased compared to mice wild-type for Slc48a1





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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory