mt-Ta<m1Jbst> Spontaneous Allele Detail MGI Mouse (MGI:5902095)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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