IMPC phenotypes (gene matching)
C3H101H-Slc40a1Pcm/H
| Status | Available to order |
| EMMA ID | EM:02534 |
| Citation information | RRID:IMSR_EM:02534 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C3H101H-Slc40a1Pcm/H |
| Alternative name | Pcm (C3H 101H-Slc40a1 |
| Strain type | Induced Mutant Strains : Radiation-induced |
| Allele/Transgene symbol | Slc40a1Pcm |
| Gene/Transgene symbol | Slc40a1 |
Information from provider
| Provider | Bruce Cattanach |
| Provider affiliation | MRC Harwell, Didcot, Oxon, OX11 0RD |
| Phenotypic information | Heterozygotes have red ears and feet; however, the phenotype is variable over time. Haematocrit scores of up to 75% have been seen. Linkage with albino was not seen, indicating that Hbb locus was not involved. Later shown to be a 58 bp deletion in the promoter region of Slc40a1. |
| Breeding history | Backcrossed to C3H/HeH x 101/H. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
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
- Hemochromatosis type 4 / Orphanet_139491
MGI phenotypes (allele matching)
- small spleen / MGI
- polycythemia / MGI
- abnormal spleen physiology / MGI
- decreased liver iron level / MGI
- decreased spleen iron level / MGI
- increased splenocyte apoptosis / MGI
- abnormal spleen development / MGI
- pallor / MGI
- decreased circulating iron level / MGI
- hypochromic microcytic anemia / MGI
- increased liver iron level / MGI
MGI phenotypes (gene matching)
- abnormal liver morphology / MGI
- abnormal liver physiology / MGI
- small spleen / MGI
- microphthalmia / MGI
- anemia / MGI
- decreased embryo size / MGI
- edema / MGI
- abnormal pancreas morphology / MGI
- premature death / MGI
- abnormal erythrocyte morphology / MGI
- abnormal macrophage physiology / MGI
- increased mean corpuscular volume / MGI
- decreased mean corpuscular volume / MGI
- increased hematocrit / MGI
- anisocytosis / MGI
- polycythemia / MGI
- decreased hemoglobin content / MGI
- increased erythrocyte cell number / MGI
- abnormal forebrain development / MGI
- nervous system phenotype / MGI
- oxidative stress / MGI
- pallor / MGI
- abnormal neural tube closure / MGI
- decreased thermal nociceptive threshold / MGI
- decreased circulating iron level / MGI
- cachexia / MGI
- abnormal enzyme/coenzyme level / MGI
- homeostasis/metabolism phenotype / MGI
- vision/eye phenotype / MGI
- hematopoietic system phenotype / MGI
- decreased mean corpuscular hemoglobin / MGI
- increased hemoglobin content / MGI
- abnormal iron homeostasis / MGI
- hemochromatosis / MGI
- hypochromic microcytic anemia / MGI
- abnormal spleen physiology / MGI
- decreased liver iron level / MGI
- increased liver iron level / MGI
- decreased spleen iron level / MGI
- increased spleen iron level / MGI
- increased circulating iron level / MGI
- abnormal pancreatic acinar cell morphology / MGI
- increased splenocyte apoptosis / MGI
- abnormal spleen development / MGI
- leptocytosis / MGI
- increased kidney iron level / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality between somite formation and embryo turning, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, incomplete penetrance / MGI
- increased circulating lipase level / MGI
- increased circulating ferritin level / MGI
- increased circulating unsaturated transferrin level / MGI
- decreased circulating unsaturated transferrin level / MGI
- increased pancreas iron level / MGI
- increased brain iron level / MGI
- increased heart iron level / MGI
- decreased intestinal iron level / MGI
Literature references
- A new at mutation/ A dominant polycythaemia ;Cattanach BM;1995;Mouse Genome;93;1026-1029 ; 15084469
- Disruption of ferroportin 1 regulation causes dynamic alterations in iron homeostasis and erythropoiesis in polycythaemia mice.;Mok Henry, Jelinek Jaroslav, Pai Sonia, Cattanach Bruce M, Prchal Josef T, Youssoufian Hagop, Schumacher Armin, ;2004;Development (Cambridge, England);131;1859-68;