IMPC phenotypes (gene matching)
B6.129-Dsetm1Mmac/Kctt
| Status | Available to order |
| EMMA ID | EM:08916 |
| Citation information | RRID:IMSR_EM:08916 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 | B6.129-Dsetm1Mmac/Kctt |
| Alternative name | Dse in C57BL/6; protein name:DS-epi1 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Dsetm1Mmac |
| Gene/Transgene symbol | Dse |
Information from provider
| Provider | marco maccarana |
| Provider affiliation | Experimental Medical Science BMC D12, Lund University |
| Additional owner | Anders Malmström and Åke Olberg, Lund University, Lund, Sweden |
| Genetic information | A 6.3 kb SphI-StuI fragment was ligated in pBluescript II KS (Stratagene) and a phosphoglycerate kinase-neomycin resistance cassette (pGKNeo) was inserted in the reverse transcriptional orientation in a unique XhoI site located in the second exon of dermatan sulfate epimerase (Dse/Sart2). Three individually targeted clones were injected into C57BL/6 blastocysts to generate chimeric mice. Chimeric males were obtained from two clones and were mated with C57BL/6 females. F1 mice with germ line transmission were intercrossed to produce all genotypes in a mixed C57BL/6 and 129/SvJ genetic background. |
| Phenotypic information | Homozygous:Perinatally dying.Heterozygous:none |
| Breeding history | The founders were backcrossed 10 times into C57BL/6. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Animals used for archiving | heterozygous C57BL/6J males, wild-type C57BL/6J females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Musculocontractural Ehlers-Danlos syndrome / Orphanet_2953
Literature references
- Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects.;Gustafsson Renata, Stachtea Xanthi, Maccarana Marco, Grottling Emma, Eklund Erik, Malmström Anders, Oldberg Ake, ;2014;Birth defects research. Part A, Clinical and molecular teratology;100;712-20; 25186462
- Dermatan sulfate epimerase 1-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin.;Maccarana Marco, Kalamajski Sebastian, Kongsgaard Mads, Magnusson S Peter, Oldberg Ake, Malmström Anders, ;2009;Molecular and cellular biology;29;5517-28; 19687302