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Celsr1 Gene Detail
Summary
  • Symbol
    Celsr1
  • Name
    cadherin, EGF LAG seven-pass G-type receptor 1
  • Synonyms
    Adgrc1, crash, Crsh, Scy
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100883
    NCBI Gene: 12614
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:85783130-85918404 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 40.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4813 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100883
 protein coding gene Chr15:85782959-85918424 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022200
 protein coding gene Chr15:86831884-86979110 (-)
A/J MGP_AJ_G0022159
 protein coding gene Chr15:83568577-83712020 (-)
AKR/J MGP_AKRJ_G0022134
 protein coding gene Chr15:86037697-86180916 (-)
BALB/cJ MGP_BALBcJ_G0022165
 protein coding gene Chr15:83698023-83837164 (-)
C3H/HeJ MGP_C3HHeJ_G0021935
 protein coding gene Chr15:85981166-86129990 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022610
 protein coding gene Chr15:90063336-90204799 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020135
 protein coding gene Chr15:79888030-80025498 (-)
CAST/EiJ MGP_CASTEiJ_G0021457
 protein coding gene Chr15:86774542-86947074 (-)
CBA/J MGP_CBAJ_G0021902
 protein coding gene Chr15:93073578-93236931 (-)
DBA/2J MGP_DBA2J_G0022029
 protein coding gene Chr15:83032526-83169674 (-)
FVB/NJ MGP_FVBNJ_G0022008
 protein coding gene Chr15:82109338-82251514 (-)
LP/J MGP_LPJ_G0022100
 protein coding gene Chr15:86980765-87127415 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022028
 protein coding gene Chr15:97722722-97873447 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022625
 protein coding gene Chr15:86048797-86201927 (-)
PWK/PhJ MGP_PWKPhJ_G0021198
 protein coding gene Chr15:83033711-83188917 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021032
 protein coding gene Chr15:85741047-85904062 (-)
WSB/EiJ MGP_WSBEiJ_G0021506
 protein coding gene Chr15:86539543-86686358 (-)



Homology
more
  • Human Ortholog
    CELSR1, cadherin EGF LAG seven-pass G-type receptor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CELSR1, cadherin EGF LAG seven-pass G-type receptor 1
  • Synonyms
    ADGRC1, CDHF9, FMI2, HFMI2, LMPHM9, ME2
  • Links
    NCBI Gene ID: 9620
    neXtProt AC: NX_Q9NYQ6
    UniProt: Q9NYQ6

  • Chr Location
    22q13.31; chr22:46360834-46537620 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CELSR1 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 8 alleles in 12 genetic backgrounds
    11 phenotypes from multigenic genotypes
    58 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.
Nullizygous mice exhibit kinky tails, variable neural tube defects, abnormal hair follicle orientation, whorl-like hair patterns, and partial prenatal lethality. ENU-induced mutants show defects in planar polarity of inner ear hair cells and complete perinatal lethality due to craniorachischisis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    39
  • GO References
    17
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
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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
    844
  • Tissues
    85
  • cDNA Data
    56
  • Literature Summary
    60
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016028 Ensembl Gene Model | MGI Sequence Detail 135275 C57BL/6J ±  kb
    transcript ENSMUST00000016172 Ensembl | MGI Sequence Detail 11305 Not Applicable  
    polypeptide ENSMUSP00000016172 Ensembl | MGI Sequence Detail 3034 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 66
      Genomic 2
      cDNA 57
      Primer pair 4
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1861995, MGI:2387968
    References
    more
    • Summaries
      All 129
      Developmental Gene Expression 60
      Diseases 2
      Gene Ontology 17
      Phenotypes 58
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:353578 Paramore SV, et al., Mesenchymal Vangl1 and Vangl2 facilitate airway elongation and widening independently of the planar cell polarity complex. Development. 2024 Aug 15;151(16):dev202692
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory