Col8a1 MGI Mouse Gene Detail - MGI:88463 - collagen, type VIII, alpha 1

Symbol

Col8a1
Name

collagen, type VIII, alpha 1
Synonyms

Col8a-1

Feature Type

protein coding gene
IDs

MGI:88463
NCBI Gene: 12837
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr16:57444621-57575100 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 34.22 cM, cytoband C1.1
Mapping Data

3 experiments

SNPs within 2kb

2974 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88463	protein coding gene	Chr16:57444619-57575100 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022900	protein coding gene	Chr16:56779311-56920505 (-)
A/J	MGP_AJ_G0022867	protein coding gene	Chr16:54355645-54489739 (-)
AKR/J	MGP_AKRJ_G0022839	protein coding gene	Chr16:56064896-56195708 (-)
BALB/cJ	MGP_BALBcJ_G0022867	protein coding gene	Chr16:54460234-54591385 (-)
C3H/HeJ	MGP_C3HHeJ_G0022630	protein coding gene	Chr16:56254671-56393783 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023315	protein coding gene	Chr16:58355268-58497694 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020826	protein coding gene	Chr16:53998207-54126082 (-)
CAST/EiJ	MGP_CASTEiJ_G0022157	protein coding gene	Chr16:56648707-56785938 (-)
CBA/J	MGP_CBAJ_G0022603	protein coding gene	Chr16:60721978-60860755 (-)
DBA/2J	MGP_DBA2J_G0022735	protein coding gene	Chr16:54086565-54220136 (-)
FVB/NJ	MGP_FVBNJ_G0022710	protein coding gene	Chr16:53859070-53992372 (-)
LP/J	MGP_LPJ_G0022802	protein coding gene	Chr16:56579384-56718145 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022728	protein coding gene	Chr16:61030855-61189614 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023330	protein coding gene	Chr16:56210636-56346646 (-)
PWK/PhJ	MGP_PWKPhJ_G0021896	protein coding gene	Chr16:54409689-54542793 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021726	protein coding gene	Chr16:56006243-56144146 (-)
WSB/EiJ	MGP_WSBEiJ_G0022201	protein coding gene	Chr16:56256423-56396149 (-)

Human Ortholog

COL8A1, collagen type VIII alpha 1 chain

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL8A1, collagen type VIII alpha 1 chain
Synonyms

C3orf7
Links

HGNC:2215

NCBI Gene ID: 1295

neXtProt AC: NX_P27658

UniProt: P27658
Chr Location

3q12.1; chr3:99638475-99799226 (+) GRCh38

MGI Vertebrate Homology

Col8a1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: COL8A1
Gene Tree

Col8a1

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Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
8 phenotypes from multigenic genotypes
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

5
Endonuclease-mediated

1
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutation of this gene causes cornea abnormalities that include increased depth of the anterior chamber and a thinner corneal stroma and Descemet's membrane.

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All GO Annotations

15
GO References

8

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

1111
Tissues

98
cDNA Data

16
Literature Summary

16

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase col8a1

ZFIN col8a1a, col8a1b

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All Sequences

42
RefSeq

2
UniProt

1
CCDS

CCDS37367.1

Ensembl

ENSMUSG00000068196 (Evidence)
NCBI Gene

12837

			Length	Strain/Species	Flank
genomic	ENSMUSG00000068196	Ensembl Gene Model \| MGI Sequence Detail	130480	C57BL/6J	± kb
transcript	ENSMUST00000089332	Ensembl \| MGI Sequence Detail	5108	Not Applicable
polypeptide	ENSMUSP00000086745	Ensembl \| MGI Sequence Detail	744	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005720 collagen alpha-1(VIII) chain

(term hierarchy)
PDB

1O91
InterPro Domains

IPR001073 C1q domain

IPR050392 Collagen/C1q domain-containing

IPR008160 Collagen triple helix repeat

IPR008983 Tumour necrosis factor-like domain superfamily

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All nucleic 19

Genomic 1

cDNA 16

Primer pair 2

Microarray probesets 6

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MGD-MRK-2080, MGD-MRK-2081

Summaries

All 57

Developmental Gene Expression 16

Diseases 1

Gene Ontology 8

Phenotypes 13
Earliest

J:35224 Iruela-Arispe ML, et al., Expression of type VIII collagen during morphogenesis of the chicken and mouse heart. Dev Biol. 1991 Mar;144(1):107-18
Latest

J:348377 Vo NDN, et al., The Role of Collagen VIII in the Aging Mouse Kidney. Int J Mol Sci. 2024 Apr 28;25(9)

TSS for Col8a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr141610	Chr16:57575070-57575087 (-)	21 bp
Tssr141609	Chr16:57465439-57465443 (-)	109,659 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24