B6N;129-Mmachctm1.1Pg/Ieg

Status

Available to order

EMMA IDEM:13830
Citation informationRRID:IMSR_EM:13830 

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International strain nameB6N;129-Mmachctm1.1Pg/Ieg
Alternative nameMmachc flox/flox
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolMmachctm1.1Pg
Gene/Transgene symbolMmachc

Information from provider

ProviderSean Froese
Provider affiliationDivision of Metabolism, University Children
Genetic informationMmachc (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 informationHomozygous:
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 historyThe 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
  • 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
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreHelmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archivinghomozygous C57BL/6N males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • 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

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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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