|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily M, member 1|
|Synonyms||Mlsn1, 4732499L03Rik, LTRPC1, melastatin|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9537 (G1)|
|Chromosomal Location||64153835-64269775 bp(+) (GRCm38)|
|Type of Mutation||unclassified|
|DNA Base Change (assembly)||G to T at 64153868 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000145593 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085222] [ENSMUST00000205348] [ENSMUST00000206277] [ENSMUST00000206314]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpm1||
(F):5'- AATCCTCATCATGTGCCCAC -3'
(R):5'- GAGCTCTTGATTGAACCACGC -3'
(F):5'- CCCCAAACCCTCTGCAGTC -3'
(R):5'- CTCTTGATTGAACCACGCTTGAAGG -3'