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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 (Humanized sequence, Null/knockout)
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 and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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:  36 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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last database update
MGI 6.11
The Jackson Laboratory