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Slc9a2tm1Ges
Targeted Allele Detail
Summary
Symbol: Slc9a2tm1Ges
Name: solute carrier family 9 (sodium/hydrogen exchanger), member 2; targeted mutation 1, Gary E Shull
MGI ID: MGI:2447441
Synonyms: NHE2-
Gene: Slc9a2  Location: Chr1:40720872-40808045 bp, + strand  Genetic Position: Chr1, 19.66 cM
Alliance: Slc9a2tm1Ges page
Structural abnormalities in the oxyntic mucosa of the gastric corpus in Slc9a2tm1Ges/Slc9a2tm1Ges mice

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:46545
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe gene was disrupted by insertion of a neomycin resistance gene into exon 2, which encodes transmembrane domains 2-7 (amino acids 99-252). Northern blot analysis detected reduced levels of mutant transcript in kidney, small and large intestines, and high levels of mutant transcript in stomach of homozygous mutant animals. Sequence analysis revealed a cryptic splice donor site at codon 172 of exon 2 spliced to the acceptor of site exon 3. This alternative transcript results in a frameshift eliminating 614 out of 813 amino acids. The deleted region includes 9 out of 12 putative transmembrane domains and the carboxy terminal hydrophilic domain. (J:46545)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 3 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 Slc9a2 Mutation:  39 strains or lines available
References
Original:  J:46545 Schultheis PJ, et al., Targeted disruption of the murine Na+/H+ exchanger isoform 2 gene causes reduced viability of gastric parietal cells and loss of net acid secretion. J Clin Invest. 1998 Mar 15;101(6):1243-53
All:  27 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
10/29/2024
MGI 6.24
The Jackson Laboratory