Rs1^em1Fegu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rs1^em1Fegu
• Name: retinoschisis (X-linked, juvenile) 1 (human); endonuclease-mediated mutation 1, Feng Gu
• MGI ID: MGI:6383470
• Synonyms: RS1-KI
• Gene: Rs1 Location: ChrX:159551009-159582659 bp, + strand Genetic Position: ChrX, 73.95 cM
• Alliance: Rs1^em1Fegu page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Single point mutation
• Mutation details: TALEN technology introduced a missense T to G mutation at position 195 in exon 4 resulting in a tyrosine to stop codon at amino acid 65 (Y65X). This is a mutation identified in a family with X-Linked Juvenile Retinoschisis. Western blot analysis confirmed absence of protein in the retina. (J:282252)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Rs1 Mutation: 6 strains or lines available

References

• Original: J:282252 Chen D, et al., Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation. Front Mol Neurosci. 2017;10:453
• All: 1 reference(s)