C3HeB/FeJ-Mitfmi-Mhdabcc2/Ieg
Status | Available to order |
EMMA ID | EM:00206 |
International strain name | C3HeB/FeJ-Mitfmi-Mhdabcc2/Ieg |
Alternative name | BCC2 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Mitfmi-Mhdabcc2, |
Gene/Transgene symbol | Mitf |
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 | Located on chromosome 6. |
Phenotypic information | Microphthalmia, pigmentation defect. |
Breeding history | More than 5 times backcrossed to C3HeB/FeJ. |
References |
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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
- Tietz syndrome / Orphanet_42665
- Ocular albinism with congenital sensorineural deafness / Orphanet_352740
- Waardenburg syndrome type 2 / Orphanet_895
- Waardenburg-Shah syndrome / Orphanet_897
MGI phenotypes (allele matching)
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
- 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
- The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins.;Hansdottir Adalheidur Gígja, Pálsdóttir Karen, Favor John, Neuhäuser-Klaus Angelika, Fuchs Helmut, de Angelis Martin Hrabé, Steingrímsson Eiríkur, ;2004;Genomics;83;932-5; 15081122
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