B6(Cg)-Mmuttm2.1Mrb/Orl
| Status | Available to order |
| EMMA ID | EM:12576 |
| International strain name | B6(Cg)-Mmuttm2.1Mrb/Orl |
| Alternative name | Mut-flox (B6-Mut |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Mmuttm2.1Mrb |
| Gene/Transgene symbol | Mmut |
Information from provider
| Provider | Matthias Baumgartner |
| Provider affiliation | Metabolism, University Children |
| Genetic information | Exon 3 of the gene methylmalonyl-CoA mutase (Mmut) was targeted to be flanked by loxP sites. For the generation of targeted ES cell clones, C57BL/6 derived ES cells were electroporated with a linearized EUCOMM vector (EUCOMM vector ID 47381). In the targeting vector, exon 3 is flanked by loxP sites; additionally an FRT-flanked targeting cassette was inserted into intron 2. This cassette included a neomycin resistance gene and a lacZ reporter, which consisted of splice acceptor (En2 SA), IRES and beta-gal. Homologous recombination in ES cells was verified by PCR screening, restriction enzyme digest and Southern Blot. A positive ES cell clone was injected into the blastocysts of C57BL/6, resulting in chimeric mice which were set up for breeding with Flp-deleter mice. The offspring was PCR screened for i) the presence of the remaining FRT-site in the targeted allele to identify germ line transmitters; ii) the absence of the neomycin cassette; iii) the distal loxP site; iv) and the Flp transgene. |
| Phenotypic information | Homozygous:There is no phenotype without cross-breeding to cre recombinase-expressing mice. The phenotype of the resulting matings depends on the cre recombinase promoter.Heterozygous:No phenotype. |
| Breeding history | Mice were kept as homozygous Mmut flox/flox, by breeding Mmut flox/flox mice with other Mmut flox/flox mice from the same line. More than 20 generations. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | homozygous C57BL/6 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 / Orphanet_289916
- Vitamin B12-unresponsive methylmalonic acidemia type mut- / Orphanet_79312
Literature references
- New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.;Remacle Noémie, Forny Patrick, Cudré-Cung Hong-Phuc, Gonzalez-Melo Mary, do Vale-Pereira Sónia, Henry Hugues, Teav Tony, Gallart-Ayala Hector, Braissant Olivier, Baumgartner Matthias, Ballhausen Diana, ;2018;Molecular genetics and metabolism;124;266-277; 29934063