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; chr2:73612886-73837046 (+)  GRCh37.p10
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: (30 annotations)

Process	apoptotic process, calcium-mediated signaling, ...
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 Type	Results
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 Model	OTTMUSG00000024144 (Evidence)
Ensembl Gene Model	ENSMUSG00000063810 (Evidence)
Entrez Gene	236266 (Evidence)
Consensus CDS Project	CCDS20298.1
International Mouse Knockout Project Status	Alms1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024144	VEGA Gene Model | MGI Sequence Detail	115223	C57BL/6J
transcript	OTTMUST00000059068	VEGA | MGI Sequence Detail	9986	Not Applicable
polypeptide	OTTMUSP00000028699	VEGA | MGI Sequence Detail	3251	Not Applicable

All sequences(14) RefSeq(2)

Polymorphisms

SNPs(268 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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