About   Help   FAQ
Alms1 Gene Detail
Summary
  • Symbol
    Alms1
  • Name
    Alstrom syndrome 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1934606
    NCBI Gene: 236266
Location & Maps
more
  • Sequence Map
    Chr6:85587531-85702753 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      115223 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ALMS1, ALMS1, centrosome and basal body associated protein
  • Vertebrate Orthologs
    7
  • Human Ortholog
    ALMS1, ALMS1, centrosome and basal body associated protein
    Orthology source: HomoloGene
  • Synonyms
    ALSS
  • Links
    NCBI Gene ID: 7840
    neXtProt AC: NX_Q8TCU4

  • Chr Location
    2p13; chr2:73385758-73609919 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Alms1 mouse models; 1 with human ALMS1 associations

Human Disease Mouse Models
       Alstrom Syndrome; ALMS   OMIM: 203800 View 3 models
       Obesity   OMIM: 601665 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 5 alleles in 5 genetic backgrounds
    3 images
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    3
  • Gene trapped
    9
  • Spontaneous
    2
  • Targeted
    1
  • Genomic Mutations
    1 involving Alms1
  • Incidental Mutations
Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    489 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 4
    Primer pair 4

    Microarray probesets 2
Other
Accession IDs
less
MGI:3584376
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 9
    Phenotypes 18
  • 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:223384 Abdelhamed ZA, et al., The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech. 2015 Jun;8(6):527-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory