C3HeB/FeJ-Nf1Mhdadsk9/Ieg
Status | Available to order |
EMMA ID | EM:00063 |
International strain name | C3HeB/FeJ-Nf1Mhdadsk9/Ieg |
Alternative name | DSK9 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Nf1Mhdadsk9, |
Gene/Transgene symbol | Nf1 |
Information from provider
Provider | Martin Hrabe de Angelis |
Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Phenotypic information | skin pigmentation defects |
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
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Juvenile myelomonocytic leukemia / Orphanet_86834
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion / Orphanet_363700
- Neurofibromatosis-Noonan syndrome / Orphanet_638
- Hereditary pheochromocytoma-paraganglioma / Orphanet_29072
- Pleomorphic rhabdomyosarcoma / Orphanet_293199
- Alveolar rhabdomyosarcoma / Orphanet_99756
- Embryonal rhabdomyosarcoma / Orphanet_99757
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
- 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
- Differential effects of neurofibromin gene dosage on melanocyte development.;Deo Mugdha, Huang Jenny Li-Ying, Fuchs Helmut, de Angelis Martin Hrabe, Van Raamsdonk Catherine D, ;2013;The Journal of investigative dermatology;133;49-58; 22810304
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