Analysis Tools|
Allele Symbol Allele Name Allele ID |
Hbbtm1Tow targeted mutation 1, Timothy Townes MGI:2664239 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• spleens are dramatically enlarged
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• spleens weight is increased to 800mg compared to 80mg in wild-type mice
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• hemoglobin levels are lower than in wild-type mice (7.1+/-0.5 g/dl compared to 14.9+/-0.7 g/dl
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• spleens are dramatically enlarged
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• spleens weight is increased to 800mg compared to 80mg in wild-type mice
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• spleens are dramatically enlarged
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• spleens weight is increased to 800mg compared to 80mg in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit increased corpus cavernosal smooth muscle relaxation in response to nerve stimulation
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity
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• mice exhibit priapism that is associated with elevated levels of adenosine
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer than expected mice are present at E12.5
• no viable mice are present at E11.5
• mice die between E10.5 and E12.5
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• extreme at E12.5, indicated by pallor and small fetal liver
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• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
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• Ter119+ CD71hi
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• primitive erythroblasts at E11.5
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• increased nuclear to cytoplasmic ratio, less condensed and granular nucleus and smaller, less basophilic staining cytoplasm
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• severely impaired at E12.5
• mice exhibit a block in differentiation at the proerythroblast/basophilic erythroblast stage in fetal liver erythropoiesis compared with wild-type mice
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• at E12.5
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• fetal liver
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• slightly at E12.5
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• severely impaired at E12.5
• mice exhibit a block in differentiation at the proerythroblast/basophilic erythroblast stage in fetal liver erythropoiesis compared with wild-type mice
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• slightly at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
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• greater impairment of Ter119+ CD71hi cells than in double homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal erythroid development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• many pups turn purple and die within a few hours of birth, however, mice that survive live to become adults (reaching at least 7 months of age)
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• weight is increased 2-fold as compared to control
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• weight is increased 2-fold as compared to control
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• weight is increased 13-fold as compared to control
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• congested sinusoidal channels are observed in spleen
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• weight is increased 13-fold as compared to control
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• erythrocytes have increased dynamic rigidity
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• average hematocrit levels are 65% of control at 3-7 months of age
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• erythrocytes contain an excess of alpha globin chain synthesis
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• sickle cell shapes are observed at a frequency of 5-10% in oxygenated blood
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• reticulocyte counts are elevated at 3-7 months of age
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• erythrocytes have decreased osmotic fragility
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• iron deposits found in the tubular epithelium of the kidney
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• iron deposits found in Kupffer cells of liver
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• kidney infarction
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• liver infarction
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• lung infarction
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• congested sinusoidal channels are observed in spleen
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• weight is increased 2-fold as compared to control
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• kidney infarction
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• weight is increased 2-fold as compared to control
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• iron deposits found in the tubular epithelium of the kidney
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• congested sinusoidal channels are observed in spleen
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• weight is increased 13-fold as compared to control
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• liver infarction
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• iron deposits found in Kupffer cells of liver
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• lung infarction
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| sickle cell anemia | DOID:10923 | J:44161 | ||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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