Slc9a1tm1Smb
Targeted Allele Detail
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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: Chr4:133097022-133151013 bp, + strand Genetic Position: Chr4, 66.25 cM, cytoband D3-E
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Alliance: |
Slc9a1tm1Smb page
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Germline Transmission: |
Earliest citation of germline transmission:
J:54705
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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) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: A 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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) |
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