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Slc9a1tm1Smb
Targeted Allele Detail
Nomenclature
Symbol: Slc9a1tm1Smb
Name: solute carrier family 9 (sodium/hydrogen exchanger), member 1; targeted mutation 1, Sheila M Bell
MGI ID: MGI:2429323
Synonyms: Nhe1-, Nhe1 -
Gene: Slc9a1  Location: Chr4:133369711-133423702 bp, + strand  Genetic Position: Chr4, 66.25 cM, cytoband D3-E
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:54705
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA portion of exon 2 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded transmembrane domains 6 and 7 (amino acids 217 through 275). Two aberrant transcripts were detected in mutant mice by Northern blot and RT-PCR analyses. Analysis indicated that a 613 bp transcript resulted from readthrough of the neo cassette and a 380 bp transcript underwent splicing of codon 198 to exon 3. Biochemical analysis, based on pH recover after an acute acid load, of acinar cells indicated a functional ablation of the endogenous protein. (J:54705)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 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 Slc9a1 Mutation:  7 strains or lines available
References
Original:  J:54705 Bell SM, et al., Targeted disruption of the murine Nhe1 locus induces ataxia, growth retardation, and seizures. Am J Physiol. 1999 Apr;276(4 Pt 1):C788-95
All:  21 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
02/18/2020
MGI 6.14
The Jackson Laboratory