C.129S2-Uros^tm1Cged/Orl

Status	Available to order
EMMA ID	EM:01875
International strain name	C.129S2-Uros^tm1Cged/Orl
Alternative name	Uros mut 248
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Uros^tm1Cged,
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	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 centre	Institut de Transgenose, INTRAGENE, Orléans, France
Animals used for archiving	homozygous BALB/c

Disease and phenotype information

MGI allele-associated human disease models

cutaneous porphyria / DOID:13271

Orphanet associated rare diseases, based on orthologous gene matching

Congenital erythropoietic porphyria / Orphanet_79277

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

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

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

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C.129S2-Urostm1Cged/Orl