- abnormal tooth color / IMPC
- abnormal tooth morphology / IMPC
- decreased body weight / IMPC
- abnormal thymus morphology / IMPC
- increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
- enlarged thymus / IMPC
- decreased lean body mass / IMPC
- decreased respiratory quotient / IMPC
- increased total body fat amount / IMPC
- abnormal spleen morphology / IMPC
- small seminal vesicle / IMPC
- increased prepulse inhibition / IMPC
- abnormal seminal vesicle morphology / IMPC
C3HeB/FeJ-Mmp20m1Mhda/Ieg
| Status | Available to order |
| EMMA ID | EM:01257 |
| Citation information | RRID:IMSR_EM:01257 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C3HeB/FeJ-Mmp20m1Mhda/Ieg |
| Alternative name | ATE004 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Mmp20m1Mhda |
| Gene/Transgene symbol | Mmp20 |
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 | Mutation: Mmp20 exon 8, c.1240 T to A, p.Y414N on chromosome 9. Primer L: GCAACGAATAGATGCTGCTG Primer R: GCAGGCTTATTGTTAAGTAGCTTGTC |
| Phenotypic information | Model for Amelogenesis Imperfecta, Hypomaturation Type (OMIM 612529) |
| 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
- Hypomaturation amelogenesis imperfecta / Orphanet_100033
IMPC phenotypes (gene 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
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