Slc26a2^em1Zhluo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc26a2^em1Zhluo
• Name: solute carrier family 26 (sulfate transporter), member 2; endonuclease-mediated mutation 1, Zhuojing Luo
• MGI ID: MGI:8448884
• Synonyms: Slc26a2 D673V
• Gene: Slc26a2 Location: Chr18:61329926-61344668 bp, - strand Genetic Position: Chr18, 34.41 cM, cytoband D3
• Alliance: Slc26a2^em1Zhluo page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details:

  Aspartic acid codon 673 (GAT) in exon 4 was changed to valine (GTT) (ENSMUSP00000119447:p.D673V) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with autosomal dominant spondylolysis. (J:291949)

Expression

In Structures Affected by this Mutation:

3 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 Slc26a2 Mutation: 28 strains or lines available

References

• Original: J:291949 Zheng C, et al., Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis. FASEB J. 2020 Jan;34(1):720-734
• All: 1 reference(s)