|Institutional Source||Beutler Lab|
|Gene Name||calcium homeostasis modulator 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5762 (G1)|
|Chromosomal Location||47141035-47144174 bp(-) (GRCm38)|
|Type of Mutation||splice site (4 bp from exon)|
|DNA Base Change (assembly)||T to A at 47143619 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000107444 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000111813]|
|Predicted Effect||probably null
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered cortical neuron electrical properties. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Calhm1||
(F):5'- TGCAAATCTCTCAGCCTCTCAG -3'
(R):5'- GGCAAGTGCTTTCTCTGTGC -3'
(F):5'- TCAGATCTGAGCTCAGGATGG -3'
(R):5'- AAGTGCTTTCTCTGTGCCTTCTG -3'