C.129S2-Urostm1Cged/Orl
Status | Available to order |
EMMA ID | EM:01875 |
International strain name | C.129S2-Urostm1Cged/Orl |
Alternative name | Uros mut 248 |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Urostm1Cged |
Gene/Transgene symbol | Uros |
Information from provider
Provider | Cecile Ged |
Provider affiliation | INSERM 217 |
Genetic information | A targeting vector was used to insert a neo cassette into intron 9 and a P248Q missense mutation (encoded by a CCA to CAA substitution) in exon 10. |
Phenotypic information | Neonatal hypotrophia. Chronic anaemia, due to excessive haemolysis, precocious and well tolerated. The presence of numerous fluorocytes among the reticulocyte fraction of red blood cells is a convenient diagnosis test. Massive accumulation of porphyrins in red blood cells, urine, faeces and hematopoietic tissues (liver and spleen). Delayed development of spontaneous lesions due to photosensitivity. Abnormal photosensitivity after acute UV exposure. |
Breeding history | Heterozygous mice were initially on a mixed 129S2-C57BL/6 background and have been backcrossed to the BALB/c background for 9 generations. Homozygotes are obtained by crossing heterozygotes but the frequency of homozygous animals from these breedings is less than expected and close to 10%. Homozygotes appear poorly reproductive. |
References |
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Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Animals used for archiving | homozygous BALB/c |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital erythropoietic porphyria / Orphanet_79277
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- fragile skeleton / MGI
- increased bone marrow cell number / MGI
- enlarged liver / MGI
- enlarged spleen / MGI
- skin photosensitivity / MGI
- hemolytic anemia / MGI
- hepatic steatosis / MGI
- anisocytosis / MGI
- poikilocytosis / MGI
- abnormal renal tubule morphology / MGI
- abnormal proximal convoluted tubule morphology / MGI
- abnormal renal glomerulus morphology / MGI
- abnormal skeleton morphology / MGI
- porphyria / MGI
- hypochromic microcytic anemia / MGI
- increased spleen red pulp amount / MGI
- decreased birth body size / MGI
- erythruria / MGI
- erythrodontia / MGI
MGI phenotypes (gene matching)
- fragile skeleton / MGI
- abnormal erythropoiesis / MGI
- increased bone marrow cell number / MGI
- enlarged liver / MGI
- enlarged spleen / MGI
- thick skin / MGI
- skin photosensitivity / MGI
- thick epidermis / MGI
- abnormal dermal layer morphology / MGI
- mixed cellular infiltration to dermis / MGI
- hemolytic anemia / MGI
- acanthosis / MGI
- hepatic steatosis / MGI
- reticulocytosis / MGI
- anisocytosis / MGI
- poikilocytosis / MGI
- abnormal renal tubule morphology / MGI
- abnormal erythrocyte physiology / MGI
- increased porphyrin level / MGI
- abnormal proximal convoluted tubule morphology / MGI
- abnormal renal glomerulus morphology / MGI
- hematopoietic system phenotype / MGI
- abnormal circulating protein level / MGI
- abnormal skeleton morphology / MGI
- abnormal enzyme/coenzyme activity / MGI
- porphyria / MGI
- hypochromic microcytic anemia / MGI
- increased spleen red pulp amount / MGI
- increased spleen iron level / MGI
- abnormal dermis papillary layer morphology / MGI
- decreased birth body size / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- erythruria / MGI
- erythrodontia / MGI
Literature references
- A knock-in mouse model of congenital erythropoietic porphyria.;Ged C, Mendez M, Robert E, Lalanne M, Lamrissi-Garcia I, Costet P, Daniel J Y, Dubus P, Mazurier F, Moreau-Gaudry F, de Verneuil H, ;2006;Genomics;87;84-92; 16314073
- The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7.;Bensidhoum M, Ged C M, Poirier C, Guénet J L, de Verneuil H, ;1994;Mammalian genome : official journal of the International Mammalian Genome Society;5;728-30; 7873885
- A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.;Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C, ;1996;European journal of human genetics : EJHG;4;274-82; 8946173
- Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.;Xu W, Kozak C A, Desnick R J, ;1995;Genomics;26;556-62; 7607680
- Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.;Aizencang G I, Bishop D F, Forrest D, Astrin K H, Desnick R J, ;2000;The Journal of biological chemistry;275;2295-304; 10644678
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