- 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 |
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, Institut de Transgenose, INTRAGENE |
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 | Institut de Transgenose, INTRAGENE, 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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