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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

HCOP human homology predictions: COL4A1
Gene Tree: Col4a1

Human
homologs
COL4A1, collagen, type IV, alpha 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1282
neXtProt AC: NX_P02462

Human Synonyms: BSVD, RATOR

Human Chr (Location): 13q34; chr13:110148958-110307157 (-)  GRCh38.p2

Disease Associations: (5) 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)
Genomic Mutations involving Col4a1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice with ENU induced mutations of this gene display various eye and vision defects. Newborn mutants may also exhibit bruises.
 
Human Diseases Modeled in Mice Using Col4a1 (3)    Mutations Annotated to Human Diseases (1)   
Interactions
Col4a1 interacts with 283 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (57 records)
Data Summary: Results (326)    Tissues (217)    Images (57)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 30
RNA in situ 215
Northern blot 17
RT-PCR 64
cDNA source data(595)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA COL4A1 ; Xenbase col4a1 ; ZFIN col4a1    NEW 
Molecular
reagents
All nucleic(616) Genomic(9) cDNA(596) Primer pair(6) Other(5)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000021316 (Evidence)
Ensembl Gene Model ENSMUSG00000031502 (Evidence)
Entrez Gene 12826 (Evidence)
UniGene 738
DFCI TC1573772, TC1594784, TC1709305
DoTS DT.101258872, DT.102546409, DT.496582, DT.91344840, DT.94244129
NIA Mouse Gene Index U029581
Consensus CDS Project CCDS40219.1
International Mouse Phenotyping Consortium Status Col4a1
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(44) RefSeq(3) 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:218940 Barnette DN, et al., RNA-seq analysis to identify novel roles of scleraxis during embryonic mouse heart valve remodeling. PLoS One. 2014;9(7):e101425
All references(139)
Disease annotation references (3)
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
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory