Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahsptm1Mjwe mutation
(0 available);
any
Ahsp mutation
(1 available)
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hematopoietic system
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• homozygotes display erythrocyte abnormalities likely to result from a pathological accumulation of precipitated alpha-haemoglobin
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• homozygotes exhibit denatured hemoglobin inclusions in mutant erythrocytes, suggesting accumulation of precipitated alpha-haemoglobin
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• homozygotes exhibit spiculated erythrocytes containing denatured hemoglobin inclusions (Heinz bodies) that stain with crystal violet
• however, no significant differences in hematocrit, erythrocyte number, mean corpuscular volume, mean corpuscular hemoglobin or mean corpuscular hemoglobin concentration are observed
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• homozygotes show a ~3-fold increase in blood reticulocyte counts relative to wild-type mice, indicating a shortened erythrocyte half-life
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahsptm1Mjwe mutation
(0 available);
any
Ahsp mutation
(1 available)
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hematopoietic system
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• spleen is significantly enlarged
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• there is an elevated level of apoptotic erythroid precursors in mutant spleens
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• mice show mild anemia associated with small red blood cells
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• spleen shows increased proportion of erythroid precursors
• cultured spleen cells show a higher proportion of burst-forming unit erythroid and colony-forming unit erythroid cells (BFUe and CFUe's)
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• erythrocytes exhibit a half-life of 12 days, compared to 22 days of cells from wild-type littermates
• erythroid precursors show significant hyperplasia in the spleen and to a lesser degree in the bone marrow
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• hematocrit is reduced to 48.7% from 55.8% in wild-type
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• erythrocytes contain alpha- and beta-globin precipitates; membrane-associated globin chains are not observed in control littermates
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• variation in hemoglobin content of mutant erythrocytes, evidenced by increased hemoglobin distribution width (HDW), is observed
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• mice have small red blood cells with low mean corpuscular hemoglobin (13.6 pg vs 16.2 pg in wild-type)
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• spiculated red blood cells can be seen in blood smears
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• blood smears show morphologic abnormalities such as irregular size and shape
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• some erythrocytes have inclusion bodies composed of denatured hemoglobin chains (Heinz bodies)
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• target red blood cells (codocytes) can be seen in blood smears
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• large inclusions are present only in polychromatophilic cells, suggesting accelerated erythrocyte destruction
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• reticulocyte count is elevated (to 4.4% from 2.2% in wild-type)
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cellular
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• mutants show a larger decrease in hematocrit after phenylhydrazine treatment resulting from hemolytic anemia compared to control littermates
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• mutant erythrocytes display intrinsically elevated oxidative stress
• mice have increased levels of reactive oxygen species catalyzed by alpha-hemoglobin
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immune system
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• spleen is significantly enlarged
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growth/size/body
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• spleen is significantly enlarged
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Allelic
Composition |
Ahsptm1Mjwe/Ahsp+
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Genetic
Background |
involves: 129 * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahsptm1Mjwe mutation
(0 available);
any
Ahsp mutation
(1 available)
|
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hematopoietic system
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• heterozygotes show a mild elevation in blood reticulocyte counts relative to wild-type mice, suggesting a subtle erythroid phenotype
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Allelic
Composition |
Ahsptm1Mjwe/Ahsp+
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Genetic
Background |
involves: 129S6/SvEvTac * C57BL/6 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahsptm1Mjwe mutation
(0 available);
any
Ahsp mutation
(1 available)
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hematopoietic system
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• erythrocytes contain inclusion bodies composed of denatured hemoglobin chains (Heinz bodies)
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hematopoietic system
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• decreased to 27.5% from ~55% in wild-type embryos
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integument
mortality/aging
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• live-born offspring are reduced by ~50% relative to expected values (observed - 6; expected - 13.7)
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hematopoietic system
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• embryos are anemic
• survivors are more anemic in early adulthood than thalassemic mice that are wild-type or heterozygous for Eraf expression
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• more erythrocytes containing inclusion bodies are observed in mutants compared to mice with thalassemia alone
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• decreased to 22.6% from 27.5% in thalassemic embryos with wild-type or heterozygous Eraf expression (or ~55% in wild-type embryos); variability is larger with Eraf-deficiency with hematocrit values in some mice of ~16%
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• greater variation in hemoglobin content of mutant erythrocytes, evidenced by increased hemoglobin distribution width (HDW), is observed compared to thalassemic mice that are wild-type or heterozygous for Eraf expression
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• mice have smaller red blood cells with lower mean corpuscular volume than thalassemic mice alone
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• increased numbers of nucleated liver-derived definitive erythrocytes are detected
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• greater variation in size of erythrocytes as shown by increased red blood cell distribution width (RBW) compared to thalassemic mice that are wild-type or heterozygous for Eraf expression
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• erythrocytes have more prominent inclusion bodies (composed of denatured hemoglobin chains (Heinz bodies)) than thalassemic mice that are wild-type or heterozygous for Eraf expression
• erythrocytes show predominantly alpha-globin precipitate
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integument
Analysis Tools