Aars2^tm2.1Htyy
Targeted Allele Detail

Summary

• Symbol: Aars2^tm2.1Htyy
• Name: alanyl-tRNA synthetase 2, mitochondrial; targeted mutation 2.1, Henna Tyynismaa
• MGI ID: MGI:6368037
• Synonyms: V755E
• Gene: Aars2 Location: Chr17:45817767-45831769 bp, + strand Genetic Position: Chr17, 22.51 cM
• Alliance: Aars2^tm2.1Htyy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:257856
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: A nucleotide change T to A at position 2264, resulting in a valine to glutamate change at amino acid 755, was introduced in exon 17. A neomycin resistance gene flanked by loxP sites was also introduced into intron 17. Cre-mediated recombination in the ES cells removed the selection cassette. (J:257856)

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 Aars2 Mutation: 41 strains or lines available

References

• Original: J:257856 Hilander T, et al., Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria. Nucleic Acids Res. 2018 Jan 25;46(2):849-860
• All: 1 reference(s)