MGI phenotypes (allele matching)
C3H101H-EbpTd/H
| Status | Available to order |
| EMMA ID | EM:01848 |
| Citation information | RRID:IMSR_EM:01848 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 | C3H101H-EbpTd/H |
| Alternative name | Tattered |
| Strain type | Induced Mutant Strains : Radiation-induced |
| Allele/Transgene symbol | EbpTd |
| Gene/Transgene symbol | Ebp |
Information from provider
| Provider | Pat Nolan |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | Found among offspring of an X-irradiated male |
| Phenotypic information | EbpTd/Y males die in utero. EbpTd/+ females show reduced viability (60-80% of normal) with losses occurring both before and after birth. They can be recognised at 5-6 days of age by scarring of the skin in patches or streaks. Hair growth is limited to the unscarred regions and bald patches may give the coat a tattered appearance. At weaning, affected females are smaller than normal. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- GM1 gangliosidosis type 1 / Orphanet_79255
- GM1 gangliosidosis type 2 / Orphanet_79256
- Mucopolysaccharidosis type 4B / Orphanet_309310
- GM1 gangliosidosis type 3 / Orphanet_79257
- X-linked dominant chondrodysplasia punctata / Orphanet_35173
- MEND syndrome / Orphanet_401973
Literature references
- Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.;Derry J M, Gormally E, Means G D, Zhao W, Meindl A, Kelley R I, Boyd Y, Herman G E, ;1999;Nature genetics;22;286-90; 10391218