Gene

col1a1a

ID

ZDB-GENE-030131-9102

Name

collagen, type I, alpha 1a

Symbol

col1a1a Nomenclature History

Previous Names

alpha1(I) (1)
cb21 (1)
col1a1
chi
chihuahua
med
microwaved
sb:cb21 (1)
sb:cb384
wu:fa99c12
wu:fb02c06

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have extracellular matrix structural constituent. Involved in several processes, including fin development; fin regeneration; and regulation of ossification. Localizes to cytoplasm. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in several diseases, including beta thalassemia; bone disease (multiple); cutaneous leishmaniasis; dermatofibrosarcoma protuberans; and tooth disease (multiple). Is expressed in several structures, including head; integument; myotome; osteoblast; and pectoral fin. Orthologous to human COL1A1 (collagen type I alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

100 figures from 68 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb21 (7 images)
cb384 (8 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 33 figures from 9 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With col1a1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Caffey disease	Alliance	Caffey disease	114000
Ehlers-Danlos syndrome arthrochalasia type 1	Alliance	Ehlers-Danlos syndrome, arthrochalasia type, 1	130060
osteogenesis imperfecta type 1	Alliance	Osteogenesis imperfecta, type I	166200
osteogenesis imperfecta type 2	Alliance	Osteogenesis imperfecta, type II	166210
osteogenesis imperfecta type 3	Alliance	Osteogenesis imperfecta, type III	259420
osteogenesis imperfecta type 4	Alliance	Osteogenesis imperfecta, type IV	166220
osteoporosis	Alliance	{Bone mineral density variation QTL, osteoporosis}	166710
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	619115

Associated With col1a1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
osteogenesis imperfecta type 3	col1a1a^dc124/+	standard conditions	Gistelinck et al., 2018
osteogenesis imperfecta	col1a1a^dc124/+ (AB)	standard conditions	Fiedler et al., 2018
osteogenesis imperfecta	col1a1a^dc124/+	standard conditions	(2)
osteogenesis imperfecta	col1a1a^dmh13/+	standard conditions	Gistelinck et al., 2018
osteogenesis imperfecta	col1a1a^dmh14/+	standard conditions	Gistelinck et al., 2018
osteogenesis imperfecta	col1a1a^dc124/+ (AB)	standard conditions	Cotti et al., 2022