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Col13a1 Gene Detail
Summary
  • Symbol
    Col13a1
  • Name
    collagen, type XIII, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277201
    NCBI Gene: 12817
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:61674015-61814887 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 32.29 cM, cytoband B4
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    929 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277201
 protein coding gene Chr10:61674013-61814985 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017289
 protein coding gene Chr10:61215097-61360548 (-)
A/J MGP_AJ_G0017267
 protein coding gene Chr10:59369409-59510132 (-)
AKR/J MGP_AKRJ_G0017227
 protein coding gene Chr10:60919858-61062367 (-)
BALB/cJ MGP_BALBcJ_G0017227
 protein coding gene Chr10:59444546-59586587 (-)
C3H/HeJ MGP_C3HHeJ_G0017050
 protein coding gene Chr10:60821348-60969044 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017685
 protein coding gene Chr10:63416600-63564606 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015376
 protein coding gene Chr10:56341957-56483966 (-)
CAST/EiJ MGP_CASTEiJ_G0016621
 protein coding gene Chr10:60845960-60992552 (-)
CBA/J MGP_CBAJ_G0017022
 protein coding gene Chr10:65783292-65936866 (-)
DBA/2J MGP_DBA2J_G0017127
 protein coding gene Chr10:58642037-58783562 (-)
FVB/NJ MGP_FVBNJ_G0017121
 protein coding gene Chr10:57891911-58039570 (-)
LP/J MGP_LPJ_G0017202
 protein coding gene Chr10:61608438-61758208 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017149
 protein coding gene Chr10:68058493-68204877 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017723
 protein coding gene Chr10:60744660-60887782 (-)
PWK/PhJ MGP_PWKPhJ_G0016404
 protein coding gene Chr10:58496099-58639357 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016187
 protein coding gene Chr10:60118178-60266309 (-)
WSB/EiJ MGP_WSBEiJ_G0016685
 protein coding gene Chr10:60663506-60812172 (-)



Homology
more
  • Human Ortholog
    COL13A1, collagen type XIII alpha 1 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL13A1, collagen type XIII alpha 1 chain
  • Synonyms
    CMS19, COLXIIIA1
  • Links
    NCBI Gene ID: 1305
    neXtProt AC: NX_Q5TAT6
    UniProt: Q5TAT6

  • Chr Location
    10q22.1; chr10:69801880-69964275 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col13a1 mouse models; 1 with human COL13A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 4 alleles in 5 genetic backgrounds
    25 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 an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    7
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
non-membrane-bounded 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
    988
  • Tissues
    64
  • cDNA Data
    13
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000058806 Ensembl Gene Model | MGI Sequence Detail 140873 C57BL/6J ±  kb
    transcript ENSMUST00000105454 Ensembl | MGI Sequence Detail 3162 Not Applicable  
    polypeptide ENSMUSP00000101094 Ensembl | MGI Sequence Detail 739 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 3
      cDNA 13
      Primer pair 3

      Microarray probesets 4
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 7
      Phenotypes 25
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:323763 Kemppainen AV, et al., The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis. Sci Rep. 2022 Apr 7;12(1):5866
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory