Mmachc^em1.1Poche
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mmachc^em1.1Poche
• Name: methylmalonic aciduria cblC type, with homocystinuria; endonuclease-mediated mutation 1.1, Ross Poche
• MGI ID: MGI:6491443
• Synonyms: Mmachc^delta
• Gene: Mmachc Location: Chr4:116559631-116565582 bp, - strand Genetic Position: Chr4, 53.29 cM, cytoband C7
• Alliance: Mmachc^em1.1Poche page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to insert loxP sites flanking exons 2 to 4. Cre-mediated recombination in the germline deleted exons 2 to 4. (J:297666)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mmachc Mutation: 30 strains or lines available

References

• Original: J:297666 Chern T, et al., Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type. Dev Biol. 2020 Dec 1;468(1-2):1-13
• All: 1 reference(s)