Slc4a4^em1Mdp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc4a4^em1Mdp
• Name: solute carrier family 4 (anion exchanger), member 4; endonuclease-mediated mutation 1, Mark D Parker
• MGI ID: MGI:8247918
• Synonyms: KOb/c
• Gene: Slc4a4 Location: Chr5:89034345-89387512 bp, + strand Genetic Position: Chr5, 44.1 cM, cytoband E2
• Alliance: Slc4a4^em1Mdp page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9-mediated recombination using a guide RNA (5'-GGACCCCAATGTAGATCGTGNGG-3') targeting exon 3 created a 5 bp deletion that disrupts the expression of the b and c isoforms but not the shorter a isoform. Western blot analysis found absence of expression in the brain and hearts but not kidneys, which predominantly express the a isoform, from homozygous mice. (J:290039)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 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: 83 strains or lines available

References

• Original: J:290039 Salerno EE, et al., Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice. J Am Soc Nephrol. 2019 Jun;30(6):979-989
• All: 3 reference(s)