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Alms1
Gene Detail
Symbol

Name
ID
Alms1
Alstrom syndrome 1
MGI:1934606
Feature Type
protein coding gene
Genetic Map
Chromosome 6
37.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr6:85587531-85702753 bp, + strand
From VEGA annotation of GRCm38

  115223 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:49406  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Alms1

Human
homologs
Human Homolog ALMS1, Alstrom syndrome 1
NCBI Gene ID 7840
neXtProt AC  NX_Q8TCU4
Human Synonyms  ALSS
Human Chr (Location)  2p13; chr2:73385758-73609919 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ALMS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Chemically induced (ENU)(2) Gene trapped(9) Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.
 
Human Diseases Modeled Using Mouse Alms1 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(3)
Interactions
Alms1 interacts with 139 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process calcium-mediated signaling, cellular glucose homeostasis, ...
Component centriole, centrosome, ...
Function alpha-actinin binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (76)    Tissues (42)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 57
In situ reporter (knock in) 9
RT-PCR 10
cDNA source data(4)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(8) cDNA(4) Primer pair(4)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000024144 (Evidence)
Ensembl Gene ModelENSMUSG00000063810 (Evidence)
Entrez Gene236266 (Evidence)
Consensus CDS ProjectCCDS20298.1
International Mouse Knockout Project StatusAlms1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024144 VEGA Gene Model | MGI Sequence Detail 115223 C57BL/6J ±  kb
transcript OTTMUST00000059068 VEGA | MGI Sequence Detail 9986 Not Applicable 
polypeptide OTTMUSP00000028699 VEGA | MGI Sequence Detail 3251 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(15)
Polymorphisms
SNPs within 2kb(465 from dbSNP Build 137)    SNPs within 2kb including multiple locations(737)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000003956 alstrom syndrome protein 1
References
(Earliest) J:78051 Collin GB, et al., Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002 May;31(1):74-8
(Latest) J:210255 Shenje LT, et al., Mutations in Alstrom protein impair terminal differentiation of cardiomyocytes. Nat Commun. 2014;5:3416
All references(34)
Disease annotation references (4)
Other
accession IDs
MGI:3584376

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory