- decreased leukocyte cell number / MGI
- spleen hypoplasia / MGI
- tremors / MGI
- progressive muscle weakness / MGI
- abnormal motor neuron morphology / MGI
- abnormal locomotor behavior / MGI
- limb grasping / MGI
- postnatal growth retardation / MGI
- thymus hypoplasia / MGI
- premature death / MGI
- decreased erythrocyte cell number / MGI
- abnormal limb posture / MGI
- decreased thymus weight / MGI
- decreased B cell number / MGI
- increased double-negative T cell number / MGI
- decreased double-positive T cell number / MGI
- cachexia / MGI
- hematopoietic system phenotype / MGI
- brain vacuoles / MGI
- increased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- increased DN1 thymic pro-T cell number / MGI
- disorganized mitochondrial cristae / MGI
- spasticity / MGI
- thymus cortex atrophy / MGI
- enlarged thymus medulla / MGI
B6.Cg-Dnajc11m1Edou/Flmg
| Status | Available to order |
| EMMA ID | EM:09005 |
| Citation information | RRID:IMSR_EM:09005 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.Cg-Dnajc11m1Edou/Flmg |
| Alternative name | B6-DnaJC11 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Dnajc11spc |
| Gene/Transgene symbol | Dnajc11 |
Information from provider
| Provider | Eleni Douni |
| Provider affiliation | BSRC Al. Fleming |
| Genetic information | DnaJC spc/spc mice carry a hypomorphic mutation in the Dnajc11 gene caused by an intronic T to A transition. This point mutation generated a new splice acceptor site leading to the incorporation of the 109 bp intronic sequence into the mature transcript of 63 kDa isoform of the Dnajc11 gene product. This insertion changed the reading frame and was predicted to result in the replacement of the 51 C-terminal amino acids of the protein by 43 different ones. |
| Phenotypic information | Homozygous:Homozygous mutants develop an autosomal recessive neuromuscular pathology characterized by locomotion defects, muscle weakness, spasticity, limb tremor, leucopenia, thymic and splenic hypoplasia, general wasting and early lethality.Heterozygous:No overt phenotype |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | B.S.R.C. Alexander Fleming, Vari, Greece |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
MGI phenotypes (gene matching)
Literature references
- A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.;Ioakeimidis Fotis, Ott Christine, Kozjak-Pavlovic Vera, Violitzi Foteini, Rinotas Vagelis, Makrinou Eleni, Eliopoulos Elias, Fasseas Costas, Kollias George, Douni Eleni, ;2014;PloS one;9;e104237; 25111180
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