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Scnn1atm1Rss
Targeted Allele Detail
Summary
Symbol: Scnn1atm1Rss
Name: sodium channel, nonvoltage-gated 1 alpha; targeted mutation 1, Bernard C Rossier
MGI ID: MGI:2158700
Synonyms: alphaENaC -, Scnn1atm1
Gene: Scnn1a  Location: Chr6:125297622-125321906 bp, + strand  Genetic Position: Chr6, 59.32 cM
Alliance: Scnn1atm1Rss page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:31762
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprt1b-m3
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA genomic fragment containing part of exon 1 and sequences encoding the first transmembrane loop and most of the ectocytoplasmic loop was replaced with a neomycin selection cassette. RT-PCR analysis on samples derived from lung, liver and kidney tissue of homozygous mice confirmed that no detectable transcript is produced from this allele. (J:31762)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scnn1a Mutation:  28 strains or lines available
References
Original:  J:31762 Hummler E, et al., Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat Genet. 1996 Mar;12(3):325-8
All:  13 reference(s)

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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory