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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
  • Gene Overview
    MyGene.info: CELSR1
Location & Maps
more
  • Sequence Map
    Chr15:85898758-86033777 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      135020 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CELSR1, cadherin EGF LAG seven-pass G-type receptor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CELSR1, cadherin EGF LAG seven-pass G-type receptor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADGRC1, CDHF9, FMI2, HFMI2, ME2
  • Links
    NCBI Gene ID: 9620
    neXtProt AC: NX_Q9NYQ6

  • Chr Location
    22q13.3; chr22:46360834-46537502 (-)  GRCh38.p2

Human Diseases
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  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    64 phenotypes from 7 alleles in 12 genetic backgrounds
    11 phenotypes from multigenic genotypes
    38 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
    14
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Spontaneous
    2
  • Targeted
    7
  • Genomic Mutations
    3 involving Celsr1
  • Incidental Mutations
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
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  • 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000016028 Ensembl Gene Model | MGI Sequence Detail 135020 C57BL/6J ±  kb
transcript ENSMUST00000016172 Ensembl | MGI Sequence Detail 11050 Not Applicable  
polypeptide ENSMUSP00000016172 Ensembl | MGI Sequence Detail 3034 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1857 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 59
    Genomic 1
    cDNA 56
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1861995, MGI:2387968
References
more
  • Summaries
    All 54
    Developmental Gene Expression 22
    Diseases 2
    Gene Ontology 16
    Phenotypes 38
  • Earliest
    J:43499 Hadjantonakis AK, et al., Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. Genomics. 1997 Oct 1;45(1):97-104
  • Latest
    J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory