- decreased mean corpuscular hemoglobin concentration / IMPC
- decreased hemoglobin content / IMPC
- hyperactivity / IMPC
- increased erythrocyte cell number / IMPC
- decreased mean corpuscular hemoglobin / IMPC
- decreased hematocrit / IMPC
- thrombocytosis / IMPC
- impaired glucose tolerance / IMPC
- decreased mean corpuscular volume / IMPC
B(BR)-Steap3fred/ApbH
Status | Available to order |
EMMA ID | EM:02187 |
International strain name | B(BR)-Steap3fred/ApbH |
Alternative name | Redburst |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Steap3fred |
Gene/Transgene symbol | Steap3 |
Information from provider
Provider | Chris Goodnow |
Provider affiliation | The Australian National University |
Genetic information | This mutation carries a point mutation T to C at nucleotide 862 (Y288H) and was identified during systematically screening of the mouse genome for autoimmune regulators. The mutation results in alteration in red blood cell development. A null mutant has been described which has defects in transferrin mediated iron uptake. |
Phenotypic information | These mice carry abnormalities in red blood cell size and shape. |
Breeding history | Original background: C57BL/6Apb. Maintained background: Mixed C57BL/6Apb x B10.BR. Breeding History: From G1 to G5 it was sib x sib mating on B6 background. Then male G5 was outcrossed to female B10.BR. Offspring were then mated sib x sib for two further generations. |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Severe congenital hypochromic anemia with ringed sideroblasts / Orphanet_300298
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- enlarged heart / MGI
- enlarged spleen / MGI
- reticulocytosis / MGI
- anisopoikilocytosis / MGI
- decreased hemoglobin content / MGI
- increased liver copper level / MGI
- abnormal erythrocyte physiology / MGI
- polychromatophilia / MGI
- reproductive system phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal iron homeostasis / MGI
- decreased circulating copper level / MGI
- hypochromic microcytic anemia / MGI
- increased liver iron level / MGI
- leptocytosis / MGI
MGI phenotypes (gene matching)
- decreased hematocrit / MGI
- extramedullary hematopoiesis / MGI
- abnormal erythropoiesis / MGI
- enlarged heart / MGI
- abnormal spleen morphology / MGI
- enlarged spleen / MGI
- abnormal spleen red pulp morphology / MGI
- abnormal reticulocyte morphology / MGI
- abnormal erythrocyte morphology / MGI
- decreased mean corpuscular volume / MGI
- reticulocytosis / MGI
- anisopoikilocytosis / MGI
- microcytic anemia / MGI
- decreased hemoglobin content / MGI
- no phenotypic analysis / MGI
- increased liver copper level / MGI
- increased erythrocyte cell number / MGI
- increased erythroid progenitor cell number / MGI
- abnormal erythrocyte physiology / MGI
- increased spleen weight / MGI
- polychromatophilia / MGI
- reproductive system phenotype / MGI
- hematopoietic system phenotype / MGI
- thrombocytosis / MGI
- increased circulating glucose level / MGI
- decreased mean corpuscular hemoglobin / MGI
- abnormal iron homeostasis / MGI
- decreased mean corpuscular hemoglobin concentration / MGI
- decreased circulating copper level / MGI
- hypochromic microcytic anemia / MGI
- increased spleen white pulp amount / MGI
- abnormal vesicle-mediated transport / MGI
- increased liver iron level / MGI
- abnormal blood osmolality / MGI
- decreased splenocyte apoptosis / MGI
- leptocytosis / MGI
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