Col1a1 MGI Mouse Gene Detail - MGI:88467 - collagen, type I, alpha 1

Symbol

Col1a1
Name

collagen, type I, alpha 1
Synonyms

Col1a-1, Cola-1, Cola1, Mov-13

Feature Type

protein coding gene
IDs

MGI:88467
NCBI Gene: 12842
Alliance

gene page
Transcription Start Sites

90 TSS

Sequence Map

Chr11:94827050-94843868 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 59.01 cM, cytoband D
Mapping Data

17 experiments

SNPs within 2kb

298 from dbSNP Build 142
Strain Annotations

18
PCR

2
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88467	protein coding gene	Chr11:94827050-94843868 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018970	protein coding gene	Chr11:97117026-97133784 (+)
A/J	MGP_AJ_G0018938	protein coding gene	Chr11:93195306-93212184 (+)
AKR/J	MGP_AKRJ_G0018908	protein coding gene	Chr11:96073610-96090417 (+)
BALB/cJ	MGP_BALBcJ_G0018911	protein coding gene	Chr11:93660895-93677654 (+)
C3H/HeJ	MGP_C3HHeJ_G0018725	protein coding gene	Chr11:96203248-96220136 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019363	protein coding gene	Chr11:100181204-100199590 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016994	protein coding gene	Chr11:90680768-90697497 (+)
CAST/EiJ	MGP_CASTEiJ_G0018279	protein coding gene	Chr11:96991278-97008081 (+)
CBA/J	MGP_CBAJ_G0018696	protein coding gene	Chr11:104264632-104281523 (+)
DBA/2J	MGP_DBA2J_G0018804	protein coding gene	Chr11:92770940-92787782 (+)
FVB/NJ	MGP_FVBNJ_G0018793	protein coding gene	Chr11:92232606-92249398 (+)
LP/J	MGP_LPJ_G0018874	protein coding gene	Chr11:97681301-97698159 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018820	protein coding gene	Chr11:104329893-104346658 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019403	protein coding gene	Chr11:96334674-96351444 (+)
PWK/PhJ	MGP_PWKPhJ_G0018050	protein coding gene	Chr11:93676368-93693333 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017839	protein coding gene	Chr11:96018756-96035604 (+)
WSB/EiJ	MGP_WSBEiJ_G0018328	protein coding gene	Chr11:96252618-96271741 (+)

Human Ortholog

COL1A1, collagen type I alpha 1 chain

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL1A1, collagen type I alpha 1 chain
Synonyms

CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
Links

HGNC:2197

NCBI Gene ID: 1277

neXtProt AC: NX_P02452

UniProt: P02452
Chr Location

17q21.33; chr17:50184101-50201632 (-) GRCh38

MGI Vertebrate Homology

Col1a1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: COL1A1
Gene Tree

Col1a1

Diseases

6 with Col1a1 mouse models; 15 with human COL1A1 associations

Human Disease

Mouse Models

osteogenesis imperfecta

IDs

View 1 model

osteogenesis imperfecta type 1

IDs

View 1 model

osteogenesis imperfecta type 2

IDs

View 2 models

osteogenesis imperfecta type 3

IDs

View 1 model

osteogenesis imperfecta type 4

IDs

View 3 models

Ehlers-Danlos syndrome

IDs

View 1 model

aggressive periodontitis

IDs

beta thalassemia

IDs

Caffey disease

IDs

cutaneous leishmaniasis

IDs

degenerative disc disease

IDs

dentinogenesis imperfecta

IDs

dermatofibrosarcoma protuberans

IDs

Ehlers-Danlos syndrome arthrochalasia type 1

IDs

osteoporosis

IDs

otosclerosis

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

21 with disease annotations

References

19 with disease annotations

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Phenotype Summary

154 phenotypes from 16 alleles in 16 genetic backgrounds
321 phenotypes from multigenic genotypes
10 images
495 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

236
Chemically induced (ENU)

3
Endonuclease-mediated

10
Gene trapped

1
Targeted

221
Transgenic

1
Genomic Mutations

4 involving Col1a1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

163 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection.

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All GO Annotations

96
GO References

40

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

1457
Tissues

393
cDNA Data

27
Literature Summary

534

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase col1a1

ZFIN col1a1a, col1a1b

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All Sequences

52
RefSeq

2
UniProt

3
CCDS

CCDS25265.1

Ensembl

ENSMUSG00000001506 (Evidence)
NCBI Gene

12842

			Length	Strain/Species	Flank
genomic	12842	NCBI Gene Model \| MGI Sequence Detail	16819	C57BL/6J	± kb
transcript	NM_007742	RefSeq \| MGI Sequence Detail	5946	ZRU/MplStud
polypeptide	P11087	UniProt \| EBI \| MGI Sequence Detail	1453	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003264 collagen alpha-1(I) chain

(term hierarchy)
InterPro Domains

IPR050149 Collagen superfamily

IPR008160 Collagen triple helix repeat

IPR000885 Fibrillar collagen, C-terminal

IPR001007 VWFC domain
GlyGen

P11087 5 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)

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All nucleic 106

Genomic 12

cDNA 35

Primer pair 28

Other 31

Microarray probesets 3

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MGD-MRK-12362, MGD-MRK-12380, MGD-MRK-2059, MGD-MRK-2087, MGD-MRK-2089

Summaries

All 1195

Developmental Gene Expression 534

Diseases 19

Gene Ontology 40

Phenotypes 495
Earliest

J:6514 Jaenisch R, et al., Chromosomal position and activation of retroviral genomes inserted into the germ line of mice. Cell. 1981 May;24(2):519-29
Latest

J:354242 Wu Y, et al., Transcriptome analysis reveals EBF1 ablation-induced injuries in cardiac system. Theranostics. 2024;14(12):4894-4915

TSS for Col1a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104226	Chr11:94827072-94827086 (+)	29 bp
Tssr104227	Chr11:94828408-94828429 (+)	1,369 bp
Tssr104228	Chr11:94828729-94828772 (+)	1,701 bp
Tssr104229	Chr11:94828778-94828881 (+)	1,780 bp
Tssr104230	Chr11:94828890-94828904 (+)	1,847 bp
Tssr104231	Chr11:94829325-94829364 (+)	2,295 bp
Tssr104232	Chr11:94829391-94829413 (+)	2,352 bp
Tssr3646	Chr11:94829928-94829953 (+)	2,891 bp
Tssr104233	Chr11:94830209-94830256 (+)	3,183 bp
Tssr104234	Chr11:94830518-94830544 (+)	3,481 bp
Tssr104235	Chr11:94830726-94830754 (+)	3,690 bp
Tssr104236	Chr11:94832831-94832873 (+)	5,802 bp
Tssr104237	Chr11:94833205-94833236 (+)	6,171 bp
Tssr104238	Chr11:94833617-94833648 (+)	6,583 bp
Tssr104239	Chr11:94834406-94834440 (+)	7,373 bp
Tssr104240	Chr11:94834546-94834562 (+)	7,504 bp
Tssr104241	Chr11:94834565-94834603 (+)	7,534 bp
Tssr104242	Chr11:94835177-94835211 (+)	8,144 bp
Tssr104243	Chr11:94835572-94835608 (+)	8,540 bp
Tssr104244	Chr11:94835731-94835762 (+)	8,697 bp
Tssr104245	Chr11:94836188-94836213 (+)	9,151 bp
Tssr104246	Chr11:94836385-94836405 (+)	9,345 bp
Tssr104247	Chr11:94836629-94836658 (+)	9,594 bp
Tssr104248	Chr11:94837135-94837143 (+)	10,089 bp
Tssr104249	Chr11:94837595-94837630 (+)	10,563 bp
Tssr104250	Chr11:94837935-94837971 (+)	10,903 bp
Tssr104251	Chr11:94838456-94838461 (+)	11,409 bp
Tssr104252	Chr11:94838487-94838499 (+)	11,443 bp
Tssr104253	Chr11:94838531-94838563 (+)	11,497 bp
Tssr104254	Chr11:94838703-94838726 (+)	11,665 bp
Tssr104255	Chr11:94838731-94838768 (+)	11,700 bp
Tssr104256	Chr11:94839154-94839180 (+)	12,117 bp
Tssr104257	Chr11:94839189-94839214 (+)	12,152 bp
Tssr104258	Chr11:94839363-94839397 (+)	12,330 bp
Tssr104259	Chr11:94839539-94839559 (+)	12,499 bp
Tssr104260	Chr11:94839560-94839611 (+)	12,536 bp
Tssr104261	Chr11:94840196-94840260 (+)	13,178 bp
Tssr104262	Chr11:94840916-94841000 (+)	13,908 bp
Tssr104263	Chr11:94841112-94841133 (+)	14,073 bp
Tssr104264	Chr11:94841136-94841155 (+)	14,096 bp
Tssr104265	Chr11:94841161-94841181 (+)	14,121 bp
Tssr104266	Chr11:94841183-94841193 (+)	14,138 bp
Tssr104267	Chr11:94841214-94841260 (+)	14,187 bp
Tssr104268	Chr11:94841264-94841288 (+)	14,226 bp
Tssr104269	Chr11:94841298-94841301 (+)	14,250 bp
Tssr104270	Chr11:94841307-94841322 (+)	14,265 bp
Tssr104271	Chr11:94841323-94841376 (+)	14,300 bp
Tssr104272	Chr11:94841529-94841570 (+)	14,500 bp
Tssr104273	Chr11:94841575-94841664 (+)	14,570 bp
Tssr104274	Chr11:94841675-94841682 (+)	14,629 bp
Tssr104275	Chr11:94841687-94841691 (+)	14,639 bp
Tssr104276	Chr11:94841697-94841702 (+)	14,650 bp
Tssr104277	Chr11:94841931-94841976 (+)	14,904 bp
Tssr104278	Chr11:94841983-94841997 (+)	14,940 bp
Tssr104279	Chr11:94842000-94842054 (+)	14,977 bp
Tssr104280	Chr11:94842055-94842066 (+)	15,011 bp
Tssr104281	Chr11:94842069-94842080 (+)	15,025 bp
Tssr104282	Chr11:94842115-94842150 (+)	15,083 bp
Tssr104283	Chr11:94842287-94842303 (+)	15,245 bp
Tssr104284	Chr11:94842312-94842363 (+)	15,288 bp
Tssr104285	Chr11:94842381-94842393 (+)	15,337 bp
Tssr104286	Chr11:94842403-94842426 (+)	15,365 bp
Tssr104287	Chr11:94842430-94842450 (+)	15,390 bp
Tssr104288	Chr11:94842452-94842490 (+)	15,421 bp
Tssr104289	Chr11:94842493-94842498 (+)	15,446 bp
Tssr104290	Chr11:94842539-94842546 (+)	15,493 bp
Tssr104291	Chr11:94842548-94842561 (+)	15,505 bp
Tssr104292	Chr11:94842586-94842658 (+)	15,572 bp
Tssr104293	Chr11:94842734-94842765 (+)	15,700 bp
Tssr104294	Chr11:94842771-94842799 (+)	15,735 bp
Tssr3647	Chr11:94842807-94842810 (+)	15,759 bp
Tssr104295	Chr11:94842829-94842843 (+)	15,786 bp
Tssr104296	Chr11:94842848-94842867 (+)	15,808 bp
Tssr104297	Chr11:94842881-94842890 (+)	15,836 bp
Tssr104298	Chr11:94842919-94842924 (+)	15,872 bp
Tssr104299	Chr11:94842947-94842958 (+)	15,903 bp
Tssr104300	Chr11:94842967-94842978 (+)	15,923 bp
Tssr104301	Chr11:94843091-94843098 (+)	16,045 bp
Tssr104302	Chr11:94843103-94843112 (+)	16,058 bp
Tssr104303	Chr11:94843117-94843131 (+)	16,074 bp
Tssr104304	Chr11:94843156-94843173 (+)	16,115 bp
Tssr104305	Chr11:94843181-94843195 (+)	16,138 bp
Tssr104306	Chr11:94843196-94843210 (+)	16,153 bp
Tssr104307	Chr11:94843212-94843227 (+)	16,170 bp
Tssr104308	Chr11:94843282-94843300 (+)	16,241 bp
Tssr104309	Chr11:94843302-94843324 (+)	16,263 bp
Tssr104310	Chr11:94843347-94843410 (+)	16,329 bp
Tssr104311	Chr11:94843443-94843459 (+)	16,401 bp
Tssr104312	Chr11:94843513-94843528 (+)	16,471 bp
Tssr104313	Chr11:94843529-94843544 (+)	16,487 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)
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