- myopathy / MGI
- abnormal skeletal muscle morphology / MGI
- abnormal muscle morphology / MGI
- abnormal diaphragm morphology / MGI
- abnormal intercostal muscle morphology / MGI
- impaired skeletal muscle contractility / MGI
- skeletal muscle necrosis / MGI
- muscle phenotype / MGI
- centrally nucleated skeletal muscle fibers / MGI
- abnormal cell cycle / MGI
- abnormal vascular wound healing / MGI
- increased sacral vertebrae number / MGI
B6;129P2-Prmt2tm1Yah Col6a1tm1Yah/+ +/Orl
| Status | Available to order |
| EMMA ID | EM:01809 |
| Citation information | RRID:IMSR_EM:01809 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;129P2-Prmt2tm1Yah Col6a1tm1Yah/+ +/Orl |
| Alternative name | Cis (Hrmt1l1tm1Yah-Col6a1tm1Ya |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Prmt2tm1Yah, Col6a1tm1Yah |
| Gene/Transgene symbol | Prmt2, Col6a1 |
Information from provider
| Provider | Yann HERAULT |
| Provider affiliation | TAAM-CDTA UPS44, CNRS-TAAM – Typing and Archiving of Animal Models |
| Genetic information | Insertion by homologous recombination in ES cells using MICER of a targeting vector containing a loxP site at the Hrmt1l1 (Prmt2) locus and of a second vector, on the same homologous chromosome, containing a loxP site at the Col6a1 locus (the two loxP sites are inserted in a cis configuration on MMU10). |
| Phenotypic information | No visible phenotype. |
| Breeding history | The mutation was generated in 129P2 ES cells, which were injected into C57BL/6 blastocysts. Backcrossed to C57BL/6 (N3) and then intercrossed. |
| References |
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Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital muscular dystrophy, Ullrich type / Orphanet_75840
- Bethlem myopathy / Orphanet_610
MGI phenotypes (gene matching)
Literature references
- Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.;Besson Vanessa, Brault Véronique, Duchon Arnaud, Togbe Dieudonné, Bizot Jean-Charles, Quesniaux Valérie F J, Ryffel Bernard, Hérault Yann, ;2007;Human molecular genetics;16;2040-52; 17591625
- Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.;Duchon Arnaud, Besson Vanessa, Pereira Patricia Lopes, Magnol Laetitia, Hérault Yann, ;2008;Genetics;180;51-9; 18757940
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