Gene

msmo1

ID

ZDB-GENE-040426-2670

Name

methylsterol monooxygenase 1

Symbol

msmo1 Nomenclature History

Previous Names

koliber (1)
sc4mol
wu:fb59g06
wu:fb66e06
zgc:56437

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to enable C-4 methylsterol oxidase activity. Acts upstream of or within cholesterol biosynthetic process and regulation of chondrocyte differentiation. Predicted to be located in endoplasmic reticulum and membrane. Is expressed in several structures, including head; hypural; integument; pleuroperitoneal region; and yolk syncytial layer. Used to study chondrodysplasia punctata. Orthologous to human MSMO1 (methylsterol monooxygenase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 7 figures from Anderson et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With msmo1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Microcephaly, congenital cataract, and psoriasiform dermatitis	616834

Associated With msmo1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
chondrodysplasia punctata	msmo1^nu81/+; msmo1^nu7/+	standard conditions	Anderson et al., 2020
chondrodysplasia punctata	msmo1^nu7/nu7	standard conditions	Anderson et al., 2020