Slc34a1^em1Cawa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc34a1^em1Cawa
• Name: solute carrier family 34 (sodium phosphate), member 1; endonuclease-mediated mutation 1, Carsten A Wagner
• MGI ID: MGI:7511831
• Synonyms: 91del7
• Gene: Slc34a1 Location: Chr13:55547435-55562508 bp, + strand Genetic Position: Chr13, 29.81 cM, cytoband B
• Alliance: Slc34a1^em1Cawa page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted the nucleotide sequence (SQKLAQV) corresponding to amino acids 91-97 (91del7). This 91-del7 in-frame deletion within the N-terminal intracellular tail of the protein is one variant among about 35 potential pathogenic mutations identified in idiopathic infantile hypercalcemia patients. (J:338295)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc34a1 Mutation: 43 strains or lines available

References

• Original: J:338295 Bieri C, et al., The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. Sci Rep. 2022 Apr 12;12(1):6102
• All: 1 reference(s)