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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 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
Alleles
and
phenotypes
All alleles(13) : Targeted(1) Gene trapped(9) Spontaneous(1) Chemically induced(2)
 
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)
Gene Ontology
(GO)
classifications
All GO classifications: (29 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)
Theiler Stages: 11, 12, 17, 19, 23, 26, 28
Assay TypeResults
RNA in situ 57
In situ reporter (knock in) 9
RT-PCR 10
cDNA source data(4)
External Resources: Allen Institute   GEO   ArrayExpress
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:187422 Collin GB, et al., The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One. 2012;7(5):e37925
All references(31)
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
04/08/2014
MGI 5.17
The Jackson Laboratory