- 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
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
MGI phenotypes (allele matching)
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