Symbol
Name
ID
|
|
|
Synonyms
|
ENaC alpha, mENaC, Scnn1
|
|
Genetic Map
|
|
|
Sequence Map
|
|
Mammalian
homology
|
|
|
Sequences
|
All sequences(21)
|
Alleles
and
phenotypes
|
All alleles(4) :
Targeted, knock-out(2)
Targeted, other(2)
| Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid. |
|
|
Polymorphisms
|
RFLP(4)
SNPs within 2kb(115 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
|
|
Expression
|
Literature Summary: (7 records)
Data Summary:
Assays (11)
Results (66)
Tissues (18)
Theiler Stages: 23,24,25,26,28
| |
Assay Type |
Assays |
|
Results |
| |
RT-PCR |
1 |
|
3 |
| |
Northern blot |
4 |
|
33 |
| |
RNase protection |
6 |
|
30 |
cDNA source data(33)
External Resources:
Allen Brain Atlas
GEO
ArrayExpress
|
Molecular
reagents
|
All nucleic(37)
cDNA(35)
Primer pair(1)
Other(1)
Microarray probesets(2)
|
Other database
links
|
|
Protein
domains
|
| InterPro ID |
Description |
| IPR001873 |
Na+ channel, amiloride-sensitive |
| IPR004724 |
Epithelial sodium channel |
| IPR020903 |
Na+ channel, amiloride-sensitive, conserved site |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:21472
Meisler MH et al.,
"SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12."
Genomics 1994 Nov 1;24(1):185-6
(Latest)
J:151683
Parreira KS et al.,
"Expression patterns of the aquaporin gene family during renal development: influence of genetic variability."
Pflugers Arch 2009 Aug;458(4):745-59
|
All references(46)
|
Other
accession IDs
|
MGD-MRK-18590, MGD-MRK-18754
|
Analysis Tools
MGI BioMart
