Slc12a2^em1Dlp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc12a2^em1Dlp
• Name: solute carrier family 12, member 2; endonuclease-mediated mutation 1, Eric Delpire
• MGI ID: MGI:6197529
• Synonyms: NKCC1-DFX
• Gene: Slc12a2 Location: Chr18:58011750-58079893 bp, + strand Genetic Position: Chr18, 32.15 cM
• Alliance: Slc12a2^em1Dlp page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: An 11 bp deletion was created in exon 22 via CRISPR/cas9 mediated recombination. In addition the repair oligonucleotides introduced a phenylalanine residue after Asp1019, followed by a stop codon. Mutant protein is detected in brain tissue from heterozygous mice but not in tissue from homozygous mutant mice. Mutant protein is mislocalized, accumulating in the apical and subapical pole of colonic epithelial cells from heterozygous mice. (J:264250)

Expression

In Structures Affected by this Mutation:

7 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 Slc12a2 Mutation: 58 strains or lines available

References

• Original: J:264250 Koumangoye R, et al., Mistargeting of a truncated Na-K-2Cl cotransporter in epithelial cells. Am J Physiol Cell Physiol. 2018 Aug 1;315(2):C258-C276
• All: 5 reference(s)