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Bsndtm1Suc
Targeted Allele Detail
Summary
Symbol: Bsndtm1Suc
Name: barttin CLCNK type accessory beta subunit; targeted mutation 1, Shinichi Uchida
MGI ID: MGI:5285212
Synonyms: BsndNeo(R8L)
Gene: Bsnd  Location: Chr4:106340653-106349440 bp, - strand  Genetic Position: Chr4, 49.67 cM
Alliance: Bsndtm1Suc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:175265
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 1 was replaced with a modified exon 1 in which nucleotide substitution(s) results in the amino acid substitution of leucine for argininge at position 8 (R8L). A floxed neo cassette inserted downstream of the modified exon 1. This is a hypomorphic allele. Reduced protein expression was confirmed by western blot analysis. (J:175265)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
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 Bsnd Mutation:  16 strains or lines available
References
Original:  J:175265 Nomura N, et al., Generation and analyses of R8L barttin knockin mouse. Am J Physiol Renal Physiol. 2011 Aug;301(2):F297-307
All:  3 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