C.129S2-Urostm1Cged/Orl

Status

Available to order

EMMA IDEM:01875
International strain nameC.129S2-Urostm1Cged/Orl
Alternative nameUros mut 248
Strain typeTargeted Mutant Strains : Knock-in
Allele/Transgene symbolUrostm1Cged
Gene/Transgene symbolUros

Information from provider

ProviderCecile Ged
Provider affiliationINSERM 217
Genetic informationA 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 informationNeonatal 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 historyHeterozygous 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
  • 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

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France
Animals used for archivinghomozygous BALB/c

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • preweaning lethality, incomplete penetrance / IMPC
  • increased leukocyte cell number / IMPC
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

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.


Search
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).