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Cbln1 Gene Detail
Summary
  • Symbol
    Cbln1
  • Name
    cerebellin 1 precursor protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:88281
    NCBI Gene: 12404
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:88195481-88199220 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 42.16 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    138 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88281
 protein coding gene Chr8:88195033-88199237 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033912
 protein coding gene Chr8:88478500-88483123 (-)
A/J MGP_AJ_G0033895
 protein coding gene Chr8:85006678-85010414 (-)
AKR/J MGP_AKRJ_G0033821
 protein coding gene Chr8:87524222-87527960 (-)
BALB/cJ MGP_BALBcJ_G0033888
 protein coding gene Chr8:85176398-85181805 (-)
C3H/HeJ MGP_C3HHeJ_G0033598
 protein coding gene Chr8:88121101-88124886 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034408
 protein coding gene Chr8:91837557-91841295 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031350
 protein coding gene Chr8:79014857-79018608 (-)
CAST/EiJ MGP_CASTEiJ_G0032929
 protein coding gene Chr8:87533016-87538522 (-)
CBA/J MGP_CBAJ_G0033574
 protein coding gene Chr8:94956699-94960410 (-)
DBA/2J MGP_DBA2J_G0033727
 protein coding gene Chr8:84611982-84615730 (-)
FVB/NJ MGP_FVBNJ_G0033674
 protein coding gene Chr8:83568632-83572343 (-)
LP/J MGP_LPJ_G0033819
 protein coding gene Chr8:88610269-88614007 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033717
 protein coding gene Chr8:97462846-97466584 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034427
 protein coding gene Chr8:87522193-87527125 (-)
PWK/PhJ MGP_PWKPhJ_G0032632
 protein coding gene Chr8:83851581-83873509 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032468
 protein coding gene Chr8:86307127-86310861 (-)
WSB/EiJ MGP_WSBEiJ_G0033040
 protein coding gene Chr8:87954494-87959601 (-)



Homology
more
  • Human Ortholog
    CBLN1, cerebellin 1 precursor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CBLN1, cerebellin 1 precursor
  • Links
    NCBI Gene ID: 869
    neXtProt AC: NX_P23435
    UniProt: P23435

  • Chr Location
    16q12.1; chr16:49277917-49281838 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 4 alleles in 3 genetic backgrounds
    10 phenotypes from multigenic genotypes
    55 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.
Homozygous mutation of this gene results in ataxia, impaired coordination, and abnormal Purkinje cell excitatory postsynaptic currents and innervation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • 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
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
    1071
  • Tissues
    196
  • cDNA Data
    29
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12404 NCBI Gene Model | MGI Sequence Detail 3740 C57BL/6J ±  kb
    transcript NM_019626 RefSeq | MGI Sequence Detail 2345 ZRU/MplStud  
    polypeptide Q9R171 UniProt | EBI | MGI Sequence Detail 193 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      Genomic 6
      cDNA 31
      Primer pair 11
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1784, MGI:2142504
    References
    more
    • Summaries
      All 123
      Developmental Gene Expression 33
      Gene Ontology 17
      Phenotypes 55
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12
    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