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| Nomenclature |
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Symbol:
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Slc4a4tm1.1Slin
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Name:
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solute carrier family 4 (anion exchanger), member 4;
targeted mutation 1.1, Shih-Hua Lin
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MGI ID: |
MGI:5433857 |
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Synonyms: |
NBC1W516X |
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Gene:
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Slc4a4
Location:
Chr5:88886818-89239653 bp, + strand
Genetic Position: Chr5,
44.1 cM, cytoband E2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:186877
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A floxed neo cassette was inserted into intron 10 and an A to G mutation, resulting in a premature stop codon at position 516 (W516X), was inserted into exon 11 via homologous recombination. Cre mediated recombination removed the neo cassette. RT-PCR indicates a significant reduction in expression in kidneys in homozygous and heterozygous mice. Immunofluorescence analysis failed to detect protein expression in kidneys from homozygous mice. (J:186877)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Slc4a4 Mutation:
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7 strains or lines available |
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| References |
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Original: |
J:186877
Lo YF et al.,
"Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis."
Kidney Int 2011 Apr;79(7):730-41
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All: |
1 reference(s)
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Analysis Tools
