Mmachc^tm1.1Pg
Targeted Allele Detail

Summary

• Symbol: Mmachc^tm1.1Pg
• Name: methylmalonic aciduria cblC type, with homocystinuria; targeted mutation 1.1, PolyGene AG
• MGI ID: MGI:7564435
• Synonyms: Mmachc^flox
• Gene: Mmachc Location: Chr4:116559631-116565582 bp, - strand Genetic Position: Chr4, 53.29 cM, cytoband C7
• Alliance: Mmachc^tm1.1Pg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:310650
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: The targeting construct floxed exon 3 through the coding sequence in exon 4. Flp-mediated recombination removed the selection cassette inserted into intron 2. (J:310650)

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:310650 Kiessling E, et al., Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. Biochim Biophys Acta Mol Basis Dis. 2021 Oct 1;1867(10):166201
• All: 1 reference(s)