IMPC phenotypes (gene matching)
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 |
|
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 (gene matching)
- vasculature congestion / MGI
- abnormal heart development / MGI
- enlarged heart / MGI
- abnormal heart shape / MGI
- double outlet right ventricle / MGI
- abnormal heart valve morphology / MGI
- distended pericardium / MGI
- abnormal atrioventricular cushion morphology / MGI
- megacephaly / MGI
- delayed kidney development / MGI
- increased foot pad pigmentation / MGI
- delayed hepatic development / MGI
- liver hypoplasia / MGI
- pale liver / MGI
- delayed muscle development / MGI
- abnormal tongue morphology / MGI
- exencephaly / MGI
- paravertebral ganglia hyperplasia / MGI
- prevertebral ganglia hyperplasia / MGI
- enlarged chest / MGI
- microphthalmia / MGI
- impaired coordination / MGI
- abnormal spatial learning / MGI
- focal hepatic necrosis / MGI
- edema / MGI
- abnormal lymphatic vessel morphology / MGI
- hemorrhage / MGI
- neoplasm / MGI
- increased tumor incidence / MGI
- increased leukemia incidence / MGI
- increased lung adenocarcinoma incidence / MGI
- increased neurofibrosarcoma incidence / MGI
- increased adrenal gland tumor incidence / MGI
- increased pheochromocytoma incidence / MGI
- abnormal muscle morphology / MGI
- no abnormal phenotype detected / MGI
- disorganized myocardium / MGI
- hydrops fetalis / MGI
- abnormal mast cell physiology / MGI
- persistent truncus arteriosis / MGI
- abnormal vein morphology / MGI
- heart hypoplasia / MGI
- abnormal discrimination learning / MGI
- decreased circulating alanine transaminase level / MGI
- nervous system phenotype / MGI
- pallor / MGI
- increased atrioventricular cushion size / MGI
- liver hemorrhage / MGI
- decreased renal glomerulus number / MGI
- decreased eye pigmentation / MGI
- pericardial effusion / MGI
- abnormal myocardium layer morphology / MGI
- decreased lactate dehydrogenase level / MGI
- abnormal enzyme/coenzyme activity / MGI
- decreased circulating aspartate transaminase level / MGI
- abnormal fetal atrioventricular canal morphology / MGI
- increased mast cell degranulation / MGI
- skeletal muscle hypoplasia / MGI
- abnormal neural crest cell morphology / MGI
- increased hepatoma incidence / MGI
- increased neurofibroma incidence / MGI
- pleural effusion / MGI
- increased fibrosarcoma incidence / MGI
- ventricular septal defect / MGI
- abnormal mitral valve cusp morphology / MGI
- postnatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- increased tail pigmentation / MGI
- increased ear pigmentation / MGI
- abnormal metanephros morphology / MGI
- increased lymphoma incidence / 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
- 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