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Spontaneous Allele Detail
Symbol: n-TRtct5m1J
Name: nuclear encoded tRNA arginine 5 (anticodon TCT); mutation 1, Jackson
MGI ID: MGI:5575489
Synonyms: n-Tr20C57BL/6J, n-TRtct5rs4644711-T, rs46447118
Gene: n-TRtct5  Location: Chr1:173390329-173390402 bp, + strand  Genetic Position: Chr1, Syntenic
Strain of Origin:  C57BL/6J
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
Mutation detailsThis C-to-T transition, the T variant of SNP rs46447118, found in C57BL/6J and C57BL/6JEiJ but not any of the other 18 inbred strains tested, is in nucleotide 50 in the stem of the T loop and impairs maturation, leading to accumulation of a 105 nucleotide pre-tRNA band with leader and trailer sequences instead of the usual 115 nucleotide pre-tRNA, and also diminishes aminoacylation of this isodecoder. (J:211326)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any n-TRtct5 Mutation:  4 strains or lines available
Original:  J:211326 Ishimura R, et al., RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. Science. 2014 Jul 25;345(6195):455-9
All:  2 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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last database update
MGI 6.15
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