Slc4a4^tm1.1Slin
Targeted Allele Detail

Summary

• Symbol: Slc4a4^tm1.1Slin
• Name: solute carrier family 4 (anion exchanger), member 4; targeted mutation 1.1, Shih-Hua Lin
• MGI ID: MGI:5433857
• Synonyms: NBC1^W516X
• Gene: Slc4a4 Location: Chr5:89034345-89387512 bp, + strand Genetic Position: Chr5, 44.1 cM, cytoband E2
• Alliance: Slc4a4^tm1.1Slin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186877
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: A floxed neo cassette was inserted into intron 10 and a G to A 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)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

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: 80 strains or lines available

References

• 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)