- abnormal embryo size / IMPC
- microphthalmia / IMPC
- polydactyly / IMPC
- edema / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal eye morphology / IMPC
- pallor / IMPC
- anophthalmia / IMPC
- enlarged lymph nodes / IMPC
- facial cleft / IMPC
- abnormal lung morphology / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- abnormal craniofacial morphology / IMPC
- abnormal epididymis morphology / IMPC
- small kidney / IMPC
B6N;129-Mmachctm1.1Pg/Ieg
| Status | Available to order |
| EMMA ID | EM:13830 |
| Citation information | RRID:IMSR_EM:13830 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 | B6N;129-Mmachctm1.1Pg/Ieg |
| Alternative name | Mmachc flox/flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Mmachctm1.1Pg |
| Gene/Transgene symbol | Mmachc |
Information from provider
| Provider | Sean Froese |
| Provider affiliation | Division of Metabolism, University Children |
| Genetic information | Mmachc (references: NCBI gene ID:67096, MGI gene ID:1914346) is located on mouse chromosome 4, covers approximately 6 kilobases and contains 4 exons coding for 279 aa of the MMACHC protein. The translation start codon (ATG) is located in exon 1 and the translational stop site (TGA) in exon 4. To generate the Mmachc-flox/flox mice, a cassette of foreign DNA containing loxP-FRT-neomycin-FRT sequences was inserted into intron 2, 143 bp upstream of exon 3. The second loxP site was inserted into the 3’UTR of exon 4, 220 bp downstream of the STOP codon. After flp-mediated recombination to delete the neomycin gene, a single FRT site remained in intron 2. |
| 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 promotor.Heterozygous:No phenotype. |
| Breeding history | The mice were kept in the homozygous Mmachc-flox/flox state by always breeding Mmachc-flox/flox mice with other Mmachc-flox/flox mice from the same line. More than 20 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | homozygous C57BL/6N males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Methylmalonic acidemia with homocystinuria, type cblC / Orphanet_79282
IMPC phenotypes (gene matching)
Literature references
- Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.;Kiessling Eva, Nötzli Sarah, Todorova Vyara, Forny Merima, Baumgartner Matthias R, Samardzija Marijana, Krijt Jakub, Kožich Viktor, Grimm Christian, Froese D Sean, ;2021;Biochimica et biophysica acta. Molecular basis of disease;1867;166201; 34147638
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).
