Mmachc^{tm1.1(NCOM)Mfgc}
Targeted Allele Detail

Summary

• Symbol: Mmachc^{tm1.1(NCOM)Mfgc}
• Name: methylmalonic aciduria cblC type, with homocystinuria; targeted mutation 1.1, Mammalian Functional Genomics Centre
• MGI ID: MGI:5766143
• Gene: Mmachc Location: Chr4:116559631-116565582 bp, - strand Genetic Position: Chr4, 53.29 cM, cytoband C7
• Alliance: Mmachc^{tm1.1(NCOM)Mfgc} page
• IMPC: Mmachc gene page

Mutation origin

• Mutant Cell Line: N01876P1_C_178W_A10
• Germline Transmission: Earliest citation of germline transmission: J:165964
• Parent Cell Line: C2 (Tcp) (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: NorCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_GOHANU
• Mutation details: The insertion of NorCOMM cassette pGOHANU created a deletion of size 3520bp between positions 116377710-116374190 of Chromosome 4 (Genome Build NCBIM37). This deletion results in the removal of functionally critical exons 3 and 4. The cassette is composed of an F3 site followed by a universal inverse PCR primer site, splice acceptor IRES-lacZ sequence and a loxP site. This first loxP site is followed by deltaTK and neomycin under the control of the human beta-actin promoter / deltaTK / neomycin phosphotransferase (neoR) gene / SV40 polyA and a second loxP site. After the second loxP site is a PhiC31 attP site and a puromycin sequence that is not active unless a promoter is inserted by PhiC31 at the attP site. The cassette is finished with an FRT site. Variations of this allele can be made using PhiC31 docking and subsequent cloning (Nagy et al., 2009. Methods Mol. Biol. 530:365-78). Cre-mediated recombination removed the floxed region. (J:165964, J:297666)

Expression

In Structures Affected by this Mutation:

14 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mmachc Mutation: 32 strains or lines available

References

• Original: J:165964 Mammalian Functional Genomics Centre, Alleles produced for the NorCOMM project by the Mammalian Functional Genomics Centre (Mfgc), University of Manitoba. MGI Direct Data Submission. 2010
• All: 5 reference(s)