Slc7a14^em1Jin
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc7a14^em1Jin
• Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 14; endonuclease-mediated mutation 1, Zi-Bing Jin
• MGI ID: MGI:7277696
• Synonyms: Slc7a14^c.AGG
• Gene: Slc7a14 Location: Chr3:31257007-31364527 bp, - strand Genetic Position: Chr3, 15.17 cM
• Alliance: Slc7a14^em1Jin page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Using an sgRNA and an ssODN template with CRISPR/Cas9 technology, glycine codon 330 (GGC) in exon 6 was changed to arginine (AGG) (c.988_990delGGCinsAGG, p.G330R). This mimics the human p.G330R mutation associated with progressive sensorineural hearing loss and retinitis pigmentosa (RP). (J:323825)

Disease models

Expression

In Mice Carrying this Mutation:

13 assay results

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 Slc7a14 Mutation: 42 strains or lines available

References

• Original: J:323825 Giffen KP, et al., Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction. Sci Adv. 2022 Apr 8;8(14):eabk0942
• All: 1 reference(s)