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Scnn1btm1.1Ipt
Targeted Allele Detail
Nomenclature
Symbol: Scnn1btm1.1Ipt
Name: sodium channel, nonvoltage-gated 1 beta; targeted mutation 1.1, Edith Hummler
MGI ID: MGI:2448620
Synonyms: beta566Stop, Liddle
Gene: Scnn1b  Location: Chr7:121865038-121918514 bp, + strand  Genetic Position: Chr7, 65.07 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:59840
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe mouse model of Liddle's syndrome was created by deleting the loxP-flanked neomycin resistance cassette following the engineered stop codon at position 566. This was achieved by mating Scnn1btm1Ipt animals to cre-expressing line TgN(EIIa-cre)C5379Lmgd. Northern blot analysis of colon and kidney mRNA showed a significant decrease in gene expression in mutant animals. (J:59840)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Scnn1b Mutation:  30 strains or lines available
References
Original:  J:59840 Pradervand S, et al., A mouse model for Liddle's syndrome. J Am Soc Nephrol. 1999 Dec;10(12):2527-33
All:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/11/2018
MGI 6.12
The Jackson Laboratory