|Institutional Source||Beutler Lab|
|Synonyms||triadin-2, triadin 2, triadin 1, triadin 3, EG432451, 2310045H21Rik, triadin-1, triadin-3|
|Essential gene?||Probably non essential (E-score: 0.066)|
|Stock #||R8329 (G1)|
|Chromosomal Location||33080554-33476709 bp(+) (GRCm38)|
|Type of Mutation||splice site (4 bp from exon)|
|DNA Base Change (assembly)||A to G at 33444078 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000093436 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095762]|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trdn||
(F):5'- GGATTCCCAGAAAGAACAATGACTG -3'
(R):5'- AGTATCCCATGTCAATCAAAGTCTG -3'
(F):5'- ACCAAGTTCTATATCTGTTCTATGGG -3'
(R):5'- ACCTAGGAATGTGTGAATGGTG -3'