Hcfc1^em1Poche
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hcfc1^em1Poche
• Name: host cell factor C1; endonuclease-mediated mutation 1, Ross Poche
• MGI ID: MGI:6860324
• Synonyms: Hcfc1^A115V
• Gene: Hcfc1 Location: ChrX:72986398-73009963 bp, - strand Genetic Position: ChrX, 37.52 cM, cytoband C1
• Alliance: Hcfc1^em1Poche page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 344, resulting in an alanine to valine substitution at amino acid 115 (p.A115V). This is the most commonly observed mutation in patients with methylmalonic aciduria and homocystinuria cblX type. (J:317822)

Disease models

Expression

In Structures Affected by this Mutation:

13 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 Hcfc1 Mutation: 8 strains or lines available

References

• Original: J:317822 Chern T, et al., Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Nat Commun. 2022 Jan 10;13(1):134
• All: 1 reference(s)