Ctns MGI Mouse Gene Detail - MGI:1932872 - cystinosis, nephropathic

Symbol

Ctns
Name

cystinosis, nephropathic

Feature Type

protein coding gene
IDs

MGI:1932872
NCBI Gene: 83429
Alliance

genome feature page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:73074422-73089868 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 45.25 cM
Mapping Data

3 experiments

SNPs within 2kb

182 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1932872	protein coding gene	Chr11:73073959-73089869 (-)
129S1/SvImJ	ENSMUSG00200045748	protein coding gene	Chr11:70117232-70132677 (-)
A/J	ENSMUSG00195040647	protein coding gene	Chr11:70049195-70064638 (-)
AKR/J	ENSMUSG00220054126	protein coding gene	Chr11:70293243-70308689 (-)
BALB/cJ	ENSMUSG00180042047	protein coding gene	Chr11:70214896-70230341 (-)
C3H/HeJ	ENSMUSG00175054280	protein coding gene	Chr11:70162140-70177585 (-)
C57BL/6NJ	ENSMUSG00215052614	protein coding gene	Chr11:69845009-69860454 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016690	protein coding gene	Chr11:67896446-67912121 (-)
CAST/EiJ	ENSTCUG00005048259	protein coding gene	Chr11:69709114-69724558 (-)
CBA/J	ENSMUSG00210050665	protein coding gene	Chr11:70016123-70031568 (-)
DBA/2J	ENSMUSG00185056540	protein coding gene	Chr11:70297583-70313030 (-)
FVB/NJ	ENSMUSG00205051615	protein coding gene	Chr11:70133870-70149319 (-)
JF1/MsJ	ENSUMUG00000056538	protein coding gene	Chr11:70691582-70708000 (-)
LP/J	ENSMUSG00230048766	protein coding gene	Chr11:71328227-71343671 (-)
NOD/ShiLtJ	ENSMUSG00190054124	protein coding gene	Chr11:70289184-70304628 (-)
NZO/HlLtJ	ENSMUSG00225038838	protein coding gene	Chr11:73512282-73527726 (-)
PWK/PhJ	ENSLUMG00010036443	protein coding gene	Chr11:70173917-70189390 (-)
SPRET/EiJ	ENSMSPG00010048990	protein coding gene	Chr11:70723624-70739032 (-)
WSB/EiJ	ENSIUOG00005046178	protein coding gene	Chr11:70243256-70258692 (-)

Human Ortholog

CTNS, cystinosin, lysosomal cystine transporter

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CTNS, cystinosin, lysosomal cystine transporter
Synonyms

CTNS-LSB, PQLC4, SLC66A4
Links

HGNC:2518

NCBI Gene ID: 1497

UniProt: O60931
Chr Location

17p13.2; chr17:3636459-3663103 (+) GRCh38

MGI Vertebrate Homology

Ctns stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CTNS
Gene Tree

Ctns

Diseases

1 with Ctns mouse models; 1 with human CTNS associations

Human Disease

Mouse Models

cystinosis

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

12 phenotypes from 1 allele in 1 genetic background
40 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

10
Chemically induced (other)

1
Endonuclease-mediated

6
Targeted

3
Genomic Mutations

2 involving Ctns
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude.

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All GO Annotations

75
GO References

13

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

597
cDNA Data

34

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ctns

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All Sequences

63
RefSeq

20
UniProt

3
CCDS

CCDS25001.1

Ensembl

ENSMUSG00000005949 (Evidence)
NCBI Gene

83429

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005949	Ensembl Gene Model \| MGI Sequence Detail	15447	C57BL/6J	± kb
transcript	ENSMUST00000006103	Ensembl \| MGI Sequence Detail	2570	Not Applicable
polypeptide	ENSMUSP00000006103	Ensembl \| MGI Sequence Detail	367	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000006014 cystinosin

(term hierarchy)
InterPro Domains

IPR005282 Lysosomal cystine transporter

IPR006603 PQ-loop repeat
GlyGen

P57757 6 sites, 1 N-linked glycan (1 site)

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All nucleic 37

cDNA 36

Primer pair 1

Microarray probesets 3

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MGI:2144084, MGI:2144487

Summaries

All 71

Diseases 1

Gene Ontology 13

Phenotypes 40
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:384226 Khare V, et al., Cystinosin regulates Na(+)/H(+) exchanger 3 trafficking and function in kidney proximal tubular cells. EMBO Rep. 2026 Apr;27(8):2088-2117

TSS for Ctns:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr109115	Chr11:73089839-73089882 (-)	7 bp
Tssr109114	Chr11:73089812-73089834 (-)	45 bp
Tssr109113	Chr11:73087578-73087593 (-)	2,282 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 09/01/2026 MGI 6.24