MGI phenotypes (allele matching)
C3HeB/FeJ-Krt1Mhdadsk12/Ieg
| Status | Available to order |
| EMMA ID | EM:01265 |
| International strain name | C3HeB/FeJ-Krt1Mhdadsk12/Ieg |
| Alternative name | DSK12 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Krt1Mhdadsk12, |
| Gene/Transgene symbol | Krt1 |
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 | Skin: pigmentation anomalies. |
| Phenotypic information | Skin: pigmentation anomalies. |
| Breeding history | More than 2 times backcrossed to C3HeB/FeJ. |
| 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
- Epidermolytic palmoplantar keratoderma / Orphanet_2199
- Striate palmoplantar keratoderma / Orphanet_50942
- KRT1-related diffuse nonepidermolytic keratoderma / Orphanet_530838
- Autosomal dominant epidermolytic ichthyosis / Orphanet_312
- Ichthyosis hystrix of Curth-Macklin / Orphanet_79503
- Annular epidermolytic ichthyosis / Orphanet_281139
- Congenital reticular ichthyosiform erythroderma / Orphanet_281190
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
- A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.;McGowan Kelly A, Aradhya Swaroop, Fuchs Helmut, de Angelis Martin H, Barsh Gregory S, ;2006;The Journal of investigative dermatology;126;1013-6; 16528356
- 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