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Targeted Allele Detail
Symbol: Slc4a4tm1.1Slin
Name: solute carrier family 4 (anion exchanger), member 4; targeted mutation 1.1, Shih-Hua Lin
MGI ID: MGI:5433857
Synonyms: NBC1W516X
Gene: Slc4a4  Location: Chr5:88886818-89239653 bp, + strand  Genetic Position: Chr5, 44.1 cM, cytoband E2
Germline Transmission:  Earliest citation of germline transmission: J:186877
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Slc4a4 Mutation:  7 strains or lines available
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory