Slc12a1 MGI Mouse Gene Detail - MGI:103150 - solute carrier family 12, member 1

Symbol

Slc12a1
Name

solute carrier family 12, member 1
Synonyms

D630042G03Rik, mBSC1, Nkcc2, urehr3

Feature Type

protein coding gene
IDs

MGI:103150
NCBI Gene: 20495
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr2:124994430-125071922 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.23 cM
Mapping Data

7 experiments

SNPs within 2kb

2265 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_103150	protein coding gene	Chr2:124994425-125071922 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026426	protein coding gene	Chr2:128316574-128400680 (+)
A/J	MGP_AJ_G0026389	protein coding gene	Chr2:123104404-123183012 (+)
AKR/J	MGP_AKRJ_G0026365	protein coding gene	Chr2:126617329-126696849 (+)
BALB/cJ	MGP_BALBcJ_G0026401	protein coding gene	Chr2:123390947-123472553 (+)
C3H/HeJ	MGP_C3HHeJ_G0026145	protein coding gene	Chr2:127110895-127188571 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026847	protein coding gene	Chr2:132427097-132508397 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024224	protein coding gene	Chr2:117887082-117965527 (+)
CAST/EiJ	MGP_CASTEiJ_G0025606	protein coding gene	Chr2:127346076-127433960 (+)
CBA/J	MGP_CBAJ_G0026125	protein coding gene	Chr2:137235208-137317074 (+)
DBA/2J	MGP_DBA2J_G0026259	protein coding gene	Chr2:122515681-122593749 (+)
FVB/NJ	MGP_FVBNJ_G0026223	protein coding gene	Chr2:121203525-121280829 (+)
LP/J	MGP_LPJ_G0026364	protein coding gene	Chr2:128558219-128639605 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026243	protein coding gene	Chr2:141375207-141455640 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026902	protein coding gene	Chr2:126649276-126732012 (+)
PWK/PhJ	MGP_PWKPhJ_G0025342	protein coding gene	Chr2:122054767-122133106 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025144	protein coding gene	Chr2:125730244-125813339 (+)
WSB/EiJ	MGP_WSBEiJ_G0025680	protein coding gene	Chr2:127555547-127636279 (+)

Human Ortholog

SLC12A1, solute carrier family 12 member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC12A1, solute carrier family 12 member 1
Synonyms

BSC, BSC-1, BSC1, CCC2, NKCC2
Links

HGNC:10910

NCBI Gene ID: 6557

neXtProt AC: NX_Q13621

UniProt: Q13621
Chr Location

15q21.1; chr15:48178438-48304078 (+) GRCh38

MGI Vertebrate Homology

Slc12a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC12A1
Gene Tree

Slc12a1

Diseases

1 with Slc12a1 mouse models; 2 with human SLC12A1 associations

Human Disease

Mouse Models

Bartter disease type 1

IDs

View 2 models

Bartter disease

IDs

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

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

62 phenotypes from 4 alleles in 5 genetic backgrounds
18 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

11
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

3
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Slc12a1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

55 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations.

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All GO Annotations

38
GO References

14

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

1031
Tissues

233
cDNA Data

116
Literature Summary

55

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc12a1

ZFIN slc12a1

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All Sequences

65
RefSeq

20
UniProt

4
CCDS

CCDS50693.1, CCDS50694.1

Ensembl

ENSMUSG00000027202 (Evidence)
NCBI Gene

20495

			Length	Strain/Species	Flank
genomic	20495	NCBI Gene Model \| MGI Sequence Detail	77493	C57BL/6J	± kb
transcript	NM_183354	RefSeq \| MGI Sequence Detail	4645	C57BL/6
polypeptide	P55014	UniProt \| EBI \| MGI Sequence Detail	1095	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014924 solute carrier family 12 member 1

(term hierarchy)
InterPro Domains

IPR013612 Amino acid permease, N-terminal

IPR004841 Amino acid permease/ SLC12A domain

IPR018491 SLC12A transporter, C-terminal

IPR004842 SLC12A transporter family

IPR002445 Solute carrier family 12 member 1

IPR002443 Solute carrier family 12 member 1/2
GlyGen

P55014 2 sites

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All nucleic 123

Genomic 2

cDNA 116

Primer pair 5

Microarray probesets 4

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MGD-MRK-24016, MGI:2139049, MGI:2444968, MGI:3712273

Summaries

All 132

Developmental Gene Expression 55

Diseases 2

Gene Ontology 14

Phenotypes 18
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:353306 Ma YS, et al., Identification of countercurrent tubule-vessel arrangements in the early development of mouse kidney based on immunohistochemistry and computer-assisted 3D visualization. PLoS One. 2024;19(8):e0307223

TSS for Slc12a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19881	Chr2:124993754-124993766 (+)	-670 bp
Tssr19882	Chr2:124994512-124994526 (+)	89 bp
Tssr19883	Chr2:124995941-124995952 (+)	1,517 bp
Tssr19884	Chr2:125000348-125000349 (+)	5,919 bp
Tssr19885	Chr2:125000840-125000857 (+)	6,419 bp
Tssr19886	Chr2:125003226-125003229 (+)	8,798 bp
Tssr19887	Chr2:125004912-125004921 (+)	10,487 bp
Tssr19888	Chr2:125006726-125006728 (+)	12,297 bp
Tssr19889	Chr2:125030900-125030907 (+)	36,474 bp
Tssr19890	Chr2:125060059-125060066 (+)	65,633 bp
Tssr19891	Chr2:125071361-125071373 (+)	76,937 bp
Tssr19892	Chr2:125071472-125071481 (+)	77,047 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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