Slc9a2tm1Ges
Targeted Allele Detail
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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
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Alliance: |
Slc9a2tm1Ges page
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Structural abnormalities in the oxyntic mucosa of the gastric corpus in Slc9a2tm1Ges/Slc9a2tm1Ges mice
Show the 3 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:46545
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
Not Specified
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Allele Type: |
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Targeted (Null/knockout) |
Mutation: |
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Insertion
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Mutation details: The 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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) |
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