Trmt10a^em1Tomik
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trmt10a^em1Tomik
• Name: tRNA methyltransferase 10A; endonuclease-mediated mutation 1, Kazuhito Tomizawa
• MGI ID: MGI:7785269
• Gene: Trmt10a Location: Chr3:137849214-137865582 bp, + strand Genetic Position: Chr3, 64.09 cM
• Alliance: Trmt10a^em1Tomik page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change in exon 2 resulting in a premature termination codon at glutamate 29. This is a mutation found in patients with a tRNA modopathy characterized by intellectual disability, microcephaly, diabetes, and short stature. (J:358937)

Expression

In Structures Affected by this Mutation:

2 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 Trmt10a Mutation: 28 strains or lines available

References

• Original: J:358937 Tresky R, et al., TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice. Nucleic Acids Res. 2024 Aug 27;52(15):9230-9246
• All: 1 reference(s)