Symbol
Name
ID
|
Bsnd
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
MGI:2153465
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Nomenclature History
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Genetic Map
|
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Chromosome 4
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Syntenic
|
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Mapping data(
1)
|
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Sequence Map
|
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Mammalian
homology
|
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Sequences
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All sequences(15)
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Alleles
and
phenotypes
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All alleles(2) :
Targeted, knock-out(1)
Targeted, other(1)
| 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. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (1)
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Polymorphisms
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SNPs within 2kb(108 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (3 records)
Data Summary:
Assays (1)
Results (5)
Tissues (5)
Theiler Stages: 26,28
| |
Assay Type |
Assays |
|
Results |
| |
RNA in situ |
1 |
|
5 |
cDNA source data(7)
External Resources:
Allen Brain Atlas
GEO
|
Molecular
reagents
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All nucleic(7)
cDNA(7)
Microarray probesets(2)
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Other database
links
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References
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(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:143314
Rickheit G et al.,
"Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV."
EMBO J 2008 Nov 5;27(21):2907-17
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All references(6)
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