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Scnn1btm1Ipt
Targeted Allele Detail
Summary
Symbol: Scnn1btm1Ipt
Name: sodium channel, nonvoltage-gated 1 beta; targeted mutation 1, Edith Hummler
MGI ID: MGI:2179831
Synonyms: betaENaC m/m
Gene: Scnn1b  Location: Chr7:121464261-121517737 bp, + strand  Genetic Position: Chr7, 65.07 cM
Alliance: Scnn1btm1Ipt page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:53057
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprt1b-m3
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
 
Mutation details: A stop codon followed by a loxP-flanked neomycin resistance cassette was inserted at a position corresponding to residue arg566 in the human gene. Northern blot analysis on colon, kidney and lung RNA revealed that a low level (1-4%) of a truncated transcript was expressed from this allele. (J:53057)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  49 strains or lines available
References
Original:  J:53057 Pradervand S, et al., Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1732-7
All:  12 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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory