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Col4a1
Gene Detail
 Symbol
Name
ID
Col4a1
collagen, type IV, alpha 1
MGI:88454
Synonyms alpha1(IV) collagen, Bru, Col4a-1, Del(8)44H, Del(8)Bru44H, Raw, Svc
Feature Type protein coding gene
Genetic Map
Chromosome 8
5.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr8:11198423-11312826 bp, - strand
From VEGA annotation of GRCm38

  114404 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20437  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Col4a1

Human
homologs
Human Homolog COL4A1, collagen, type IV, alpha 1
NCBI Gene ID 1282
neXtProt AC  NX_P02462
Human Synonyms  arresten, HANAC, ICH, POREN1
Human Chr (Location)  13q34; chr13:110148963-110307149 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human COL4A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Chemically induced (ENU)(9) Chemically induced (other)(2) Gene trapped(5) Radiation induced(2) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice with ENU induced mutations of this gene display various eye and vision defects. Newborn mutants may also exhibit bruises.
 
Human Diseases Modeled Using Mouse Col4a1 (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Col4a1 interacts with 283 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process angiogenesis, basement membrane organization, ...
Component basement membrane, collagen trimer, ...
Function extracellular matrix structural constituent, platelet-derived growth factor binding
External Resources: FuncBase
Expression
Literature Summary: (54 records)
Data Summary: Results (327)    Tissues (219)    Images (57)
Theiler Stages: 11, 14, 15, 17, 20, 21, 22, 23, 24, 26, 27, 28
Assay TypeResults
Immunohistochemistry 31
RNA in situ 215
Northern blot 17
RT-PCR 64
cDNA source data(595)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(616) Genomic(9) cDNA(596) Primer pair(6) Other(5)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000021316 (Evidence)
Ensembl Gene ModelENSMUSG00000031502 (Evidence)
Entrez Gene12826 (Evidence)
UniGene738
DFCITC1573772, TC1594784, TC1709305
DoTSDT.101258872, DT.102546409, DT.496582, DT.91344840, DT.94244129
NIA Mouse Gene IndexU029581
Consensus CDS ProjectCCDS40219.1
International Mouse Knockout Project StatusCol4a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021316 VEGA Gene Model | MGI Sequence Detail 114404 C57BL/6J ±  kb
transcript OTTMUST00000050536 VEGA | MGI Sequence Detail 6615 Not Applicable 
polypeptide OTTMUSP00000023605 VEGA | MGI Sequence Detail 1669 Not Applicable 

For the selected sequences
All sequences(46) RefSeq(5) UniProt(1)
Polymorphisms RFLP(3) : SNPs within 2kb(1061 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001442 Collagen IV, non-collagenous
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR016187 C-type lectin fold
Protein Ontology PR:000005713 collagen alpha-1(IV) chain
References (Earliest) J:15727 Kurkinen M, et al., Isolation of cDNA clones for basal lamina components: type IV procollagen. Nucleic Acids Res. 1983 Sep 24;11(18):6199-209
(Latest) J:206981 Kuo DS, et al., Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Hum Mol Genet. 2014 Apr 1;23(7):1709-22
All references(134)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1671, MGD-MRK-2066, MGD-MRK-2068, MGI:1890530, MGI:1890533, MGI:88206

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory