Bsnd
Gene Detail

Symbol Name ID

Bsnd Bartter syndrome, infantile, with sensorineural deafness (Barttin) MGI:2153465

Feature Type

protein coding gene

Genetic Map

Chromosome 4

49.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr4:106483456-106492283 bp, - strand From VEGA annotation of GRCm38   8828 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:14291  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Bsnd

Human homologs

Human Homolog		BSND, Bartter syndrome, infantile, with sensorineural deafness (Barttin)
NCBI Gene ID		7809
neXtProt AC		NX_Q8WZ55
Human Synonyms		BART, DFNB73
Human Chr (Location)		1p32.1; chr1:55464617-55474465 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BSND

Alleles and phenotypes

All alleles(6) : Targeted(6)
 

Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration.

 
Human Diseases Modeled Using Mouse Bsnd (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	cellular chloride ion homeostasis, cellular ion homeostasis, ...
Component	basolateral plasma membrane, integral to membrane, ...
Function	chloride channel activity, chloride channel regulator activity, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (44)    Tissues (10)    Images (14)
Theiler Stages: 23, 26, 28

Assay Type	Results
RNA in situ	44

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000008195 (Evidence)
Ensembl Gene Model	ENSMUSG00000025418 (Evidence)
Entrez Gene	140475 (Evidence)
UniGene	135448
DFCI	TC1586490
DoTS	DT.101359696, DT.99850386
NIA Mouse Gene Index	U025327
Consensus CDS Project	CCDS18419.1
International Mouse Knockout Project Status	Bsnd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000008195	VEGA Gene Model | MGI Sequence Detail	8828	C57BL/6J
transcript	OTTMUST00000018616	VEGA | MGI Sequence Detail	2756	Not Applicable
polypeptide	OTTMUSP00000008552	VEGA | MGI Sequence Detail	307	Not Applicable

All sequences(19) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(85 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
Protein Ontology	PR:000004831	barttin

References

(Earliest) J:72408 Birkenhager R, et al., Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4
(Latest) J:186888 Nagalakshmi VK, et al., Dicer regulates the development of nephrogenic and ureteric compartments in the mammalian kidney. Kidney Int. 2011 Feb;79(3):317-30
All references(34)