Cln3 MGI Mouse Gene Detail - MGI:107537 - ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)

Cln3 Gene Detail

Symbol

Cln3
Name

ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
Synonyms

battenin

Feature Type

protein coding gene
IDs

MGI:107537
NCBI Gene: 12752
Gene Overview

MyGene.info: CLN3
Alliance

gene page

Sequence Map

Chr7:126571207-126585817 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

14611 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 69.16 cM
Mapping Data

2 experiments

Human Ortholog

CLN3, CLN3, battenin

Vertebrate Orthologs

7

Human Ortholog

CLN3, CLN3, battenin
Orthology source: HomoloGene, HGNC
Synonyms

BTN1, BTS, JNCL
Links

HGNC:2074

NCBI Gene ID: 1201

neXtProt AC: NX_Q13286

UniProt: Q13286
Chr Location

16p12.1; chr16:28466653-28492302 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 37259
1 human;1 mouse;1 rat;1 cattle;1 dog;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: CLN3
Protein SuperFamily

CLN3 protein/Battenin (Batten disease protein)
Gene Tree

Cln3

Diseases

1 with Cln3 mouse models; 1 with human CLN3 associations

Human Disease

Mouse Models

neuronal ceroid lipofuscinosis 3

IDs

View 6 models

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

Mutations/Alleles

4 with disease annotations

References

6 with disease annotations

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Phenotype Summary

44 phenotypes from 4 alleles in 6 genetic backgrounds
61 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

15
Gene trapped

6
Targeted

9
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available

Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance.

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All GO Annotations

73
GO References

19

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

81
Tissues

59
cDNA Data

71
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cln3

ZFIN cln3

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Cln3 interacts with 176 markers (Mir1b, Mir7-2, Mir7b, ...) View All

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All Sequences

103
RefSeq

19
UniProt

10
CCDS

CCDS21833.1
UniGene

268930

			Length	Strain/Species	Flank
genomic	OTTMUSG00000019900	VEGA Gene Model \| MGI Sequence Detail	14611	C57BL/6J	± kb
transcript	OTTMUST00000047437	VEGA \| MGI Sequence Detail	3203	Not Applicable
polypeptide	OTTMUSP00000021443	VEGA \| MGI Sequence Detail	438	Not Applicable

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SNPs within 2kb

113 from dbSNP Build 142

RFLP

1

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UniProt

10 Sequences
InterPro Domains

IPR003492 Batten's disease protein Cln3

IPR018460 Batten's disease protein Cln3, subgroup

IPR036259 MFS transporter superfamily

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All nucleic 71

cDNA 71

Microarray probesets 4

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MGD-MRK-36107, MGI:2141907

Summaries

All 95

Developmental Gene Expression 4

Diseases 6

Gene Ontology 19

Phenotypes 61
Earliest

J:34626 Lee RL, et al., Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics. 1996 Aug 1;35(3):617-9
Latest

J:255487 Llavero Hurtado M, et al., Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo. Sci Rep. 2017 Sep 29;7(1):12412

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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