Mtrfr^em9Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mtrfr^em9Rwb
• Name: mitochondrial translation release factor in rescue; endonuclease-mediated mutation 9, Robert W Burgess
• MGI ID: MGI:8407815
• Synonyms: Mtrfr^K155*
• Gene: Mtrfr Location: Chr5:124466152-124479907 bp, + strand Genetic Position: Chr5, 63.52 cM, cytoband F
• Alliance: Mtrfr^em9Rwb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details:

  This premature termination of K155*, K156* in Exon3 was generated via CRISPR/cas9 mediated substitution of TAA TAA stop codons in place of AAA AAA lysine codons. (J:370627)

• Inheritance: Recessive

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 Mtrfr Mutation: 13 strains or lines available

References

• Original: J:370627 Pratt SL, et al., Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency. Dis Model Mech. 2025 May 1;18(5)
• All: 1 reference(s)