MGI phenotypes (allele matching)
C3H101H-EbpTd/H
| Status | Available to order |
| EMMA ID | EM:01848 |
| 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