MGI phenotypes (allele matching)
- vision/eye phenotype / MGI
B6.129S2(Cg)-Dcntm1.2Geno/Oulu
| Status | Available to order |
| EMMA ID | EM:10541 |
| Citation information | RRID:IMSR_EM:10541 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 | B6.129S2(Cg)-Dcntm1.2Geno/Oulu |
| Alternative name | B6.129S-Dcntm1Geno/Ub |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Dcntm1.2Geno |
| Gene/Transgene symbol | Dcn |
Information from provider
| Provider | Eyvind Rødahl |
| Provider affiliation | Dept of clinical medicine, University of Bergen |
| Genetic information | Mice with a 952delT mutation in the decorin gene. The mutation was inserted into the native decorin gene by homologous recombination. This mutation corresponds to the human 967delT mutation which causes congenital stromal corneal dystrophy. |
| Phenotypic information | Homozygous:The homozygous mice have no obvious phenotype. They breed normally and have no developmental defects. We have not been able to detect any corneal opacities as seen in the human condition.Heterozygous:The heterozygous mice have no obvious phenotype. They develop and breed normally. |
| Breeding history | Targeting construct was transfected into 129/SvPas ES cells. The resulting ES cell clones were injected into C57BL/6J blastocysts. Blastocysts were injected into OF-1 pseudopregnant females. Chimeric males were selected for further breeding with C57BL/6J Flp recombinase expressing deleter mice. Mice were further bred into C57BL/6J mice to obtain a pure line of neo-excised point mutation mice devoid of the Flp transgene. Mice have been further backcrossed for 9 successive generations with C57BL/6J mice. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
| Animals used for archiving | homozygous males |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital stromal corneal dystrophy / Orphanet_101068
MGI phenotypes (gene matching)
- hydronephrosis / MGI
- salivary gland epithelial hyperplasia / MGI
- thin skin / MGI
- thin dermal layer / MGI
- abnormal humoral immune response / MGI
- reduced female fertility / MGI
- neoplasm / MGI
- no abnormal phenotype detected / MGI
- decreased susceptibility to bacterial infection / MGI
- tubular nephritis / MGI
- dilated renal tubules / MGI
- decreased skin tensile strength / MGI
- renal interstitial fibrosis / MGI
- abnormal periodontal ligament morphology / MGI
- periodontal ligament hypercellularity / MGI
- abnormal bone structure / MGI
- increased renal tubule apoptosis / MGI
- kidney atrophy / MGI
- homeostasis/metabolism phenotype / MGI
- behavior/neurological phenotype / MGI
- immune system phenotype / MGI
- skeleton phenotype / MGI
- vision/eye phenotype / MGI
- hematopoietic system phenotype / MGI
- loose skin / MGI
- abnormal tendon morphology / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal renal tubule epithelium morphology / MGI
- abnormal stomach mucosa morphology / MGI
- renal tubule atrophy / MGI
- increased glomerular capsule space / MGI
Literature references
- Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.;Mellgren Anne Elisabeth Christensen, Bruland Ove, Vedeler Anni, Saraste Jaakko, Schönheit Jürgen, Bredrup Cecilie, Knappskog Per Morten, Rødahl Eyvind, ;2015;Investigative ophthalmology & visual science;56;2909-15; 26029887