C3HeB/FeJ-Rps20^Mhdadsk4/Ieg

Status	Available to order
EMMA ID	EM:00060
International strain name	C3HeB/FeJ-Rps20^Mhdadsk4/Ieg
Alternative name	DSK4
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Rps20^Mhdadsk4
Gene/Transgene symbol	Rps20

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	Unknown.
Phenotypic information	Skin pigmentation defects.
Breeding history	Around 5 times backcrossed to C3HeB/FeJ.
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 Genetics of dark skin in mice.;Fitch Karen R, McGowan Kelly A, van Raamsdonk Catherine D, Fuchs Helmut, Lee Daekee, Puech Anne, Hérault Yann, Threadgill David W, Hrabé de Angelis Martin, Barsh Gregory S, ;2003;Genes & development;17;214-28; 12533510 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017 Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.;McGowan Kelly A, Li Jun Z, Park Christopher Y, Beaudry Veronica, Tabor Holly K, Sabnis Amit J, Zhang Weibin, Fuchs Helmut, de Angelis Martin Hrabé, Myers Richard M, Attardi Laura D, Barsh Gregory S, ;2008;Nature genetics;40;963-70; 18641651

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Familial colorectal cancer Type X / Orphanet_440437
Blackfan-Diamond anemia / Orphanet_124

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
decreased exploration in new environment / IMPC
embryonic lethality prior to organogenesis / IMPC

MGI phenotypes (allele matching)

increased foot pad pigmentation / MGI
abnormal skin pigmentation / MGI
prenatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

increased foot pad pigmentation / MGI
abnormal skin pigmentation / MGI
prenatal lethality, complete penetrance / MGI

Literature references

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
Genetics of dark skin in mice.;Fitch Karen R, McGowan Kelly A, van Raamsdonk Catherine D, Fuchs Helmut, Lee Daekee, Puech Anne, Hérault Yann, Threadgill David W, Hrabé de Angelis Martin, Barsh Gregory S, ;2003;Genes & development;17;214-28; 12533510
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.;McGowan Kelly A, Li Jun Z, Park Christopher Y, Beaudry Veronica, Tabor Holly K, Sabnis Amit J, Zhang Weibin, Fuchs Helmut, de Angelis Martin Hrabé, Myers Richard M, Attardi Laura D, Barsh Gregory S, ;2008;Nature genetics;40;963-70; 18641651

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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)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-Rps20Mhdadsk4/Ieg