mt-Ta^m1Jbst
Spontaneous Allele Detail

Summary

• Symbol: mt-Ta^m1Jbst
• Name: mitochondrially encoded tRNA alanine; mutation 1, James B Stewart
• MGI ID: MGI:5902095
• Synonyms: Cmt-Ta^5024T, tRNA^Ala (C5024T)
• Gene: mt-Ta Location: ChrMT:5018-5086 bp, - strand Genetic Position: ChrMT, Syntenic
• Alliance: mt-Ta^m1Jbst page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Spontaneous (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: A spontaneous mutation in Polg^tm1.1Lrsn mice produced a C to T point mutation at position 5024 (C5024T). This mutation disrupts the same base pair in the acceptor stem as the pathogenic mutation in human with a mitochondrial disease syndrome. (J:238994)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any mt-Ta Mutation: 1 strain or line available

Notes

This allele is co-inherited with mt-Nd6^m1Jbst in cis. However, the mt-Nd6 mutation is in a poorly conserved region and is predicted to have low pathogenicity.

References

• Original: J:238994 Kauppila JH, et al., A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease. Cell Rep. 2016 Sep 13;16(11):2980-90
• All: 8 reference(s)