Slc26a4^em1Jgao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc26a4^em1Jgao
• Name: solute carrier family 26, member 4; endonuclease-mediated mutation 1, Jiangang Gao
• MGI ID: MGI:6500762
• Synonyms: L236P
• Gene: Slc26a4 Location: Chr12:31569826-31609968 bp, - strand Genetic Position: Chr12, 13.53 cM, cytoband B1
• Alliance: Slc26a4^em1Jgao page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to C change at position 707 (c.T707C) resulting in an leucine to proline substitution at residue 236 (L236P). This is the most common mutation found in individuals with Pendred syndrome. (J:291230)

Disease models

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 Slc26a4 Mutation: 38 strains or lines available

References

• Original: J:291230 Wen Z, et al., A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation. Biochem Biophys Res Commun. 2019 Jul 23;515(2):359-365
• All: 1 reference(s)