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Opn1sw Gene Detail
Summary
  • Symbol
    Opn1sw
  • Name
    opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)
  • Synonyms
    Bcp, Blue Cone Opsin, Blue Opsin, Blue/UV Opsin, Short Wavelength Sensitive opsin, S Opsin, SWS opsin, UV cone pigment
  • Feature Type
    protein coding gene
  • IDs
    MGI:99438
    NCBI Gene: 12057
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:29376670-29380512 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 12.36 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    138 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99438
 protein coding gene Chr6:29376670-29388467 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030521
 protein coding gene Chr6:27165982-27180338 (-)
A/J MGP_AJ_G0030494
 protein coding gene Chr6:26017637-26029156 (-)
AKR/J MGP_AKRJ_G0030421
 protein coding gene Chr6:26877390-26889488 (-)
BALB/cJ MGP_BALBcJ_G0030504
 protein coding gene Chr6:26173035-26185315 (-)
C3H/HeJ MGP_C3HHeJ_G0030217
 protein coding gene Chr6:26874234-26887800 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030958
 protein coding gene Chr6:27951519-27965557 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028169
 protein coding gene Chr6:24224875-24236559 (-)
CAST/EiJ MGP_CASTEiJ_G0029619
 protein coding gene Chr6:26672588-26685807 (-)
CBA/J MGP_CBAJ_G0030195
 protein coding gene Chr6:28995247-29009014 (-)
DBA/2J MGP_DBA2J_G0030339
 protein coding gene Chr6:25959992-25972120 (-)
FVB/NJ MGP_FVBNJ_G0030293
 protein coding gene Chr6:25716282-25729728 (-)
LP/J MGP_LPJ_G0030426
 protein coding gene Chr6:27300355-27312761 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030329
 protein coding gene Chr6:31513526-31525347 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030988
 protein coding gene Chr6:26752305-26764937 (-)
PWK/PhJ MGP_PWKPhJ_G0029333
 protein coding gene Chr6:25496476-25508690 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029169
 protein coding gene Chr6:26469346-26482707 (-)
WSB/EiJ MGP_WSBEiJ_G0029695
 protein coding gene Chr6:26724340-26736126 (-)



Homology
more
  • Human Ortholog
    OPN1SW, opsin 1, short wave sensitive
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OPN1SW, opsin 1, short wave sensitive
  • Synonyms
    BCP, BOP, CBT
  • Links
    NCBI Gene ID: 611
    neXtProt AC: NX_P03999
    UniProt: P03999

  • Chr Location
    7q32.1; chr7:128772485-128775794 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human OPN1SW associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-in allele exhibit abnormal cone physiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    15
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    970
  • Tissues
    69
  • cDNA Data
    25
  • Literature Summary
    81
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 12057 NCBI Gene Model | MGI Sequence Detail 3843 C57BL/6J ±  kb
transcript NM_007538 RefSeq | MGI Sequence Detail 2420 C57BL/6  
polypeptide P51491 UniProt | EBI | MGI Sequence Detail 346 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 42
    Genomic 2
    cDNA 26
    Primer pair 14

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-16202, MGI:2141695
References
more
  • Summaries
    All 130
    Developmental Gene Expression 81
    Gene Ontology 15
    Phenotypes 8
  • Earliest
    J:49034 Weitz CJ, et al., Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment [letter]. Am J Hum Genet. 1992 Aug;51(2):444-6
  • Latest
    J:355222 Nord C, et al., Reduced mTORC1-signaling in progenitor cells leads to retinal lamination deficits. Dev Dyn. 2024 Oct;253(10):922-939
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory