Rs1^tm2.1Rom
Targeted Allele Detail

Summary

• Symbol: Rs1^tm2.1Rom
• Name: retinoschisis (X-linked, juvenile) 1 (human); targeted mutation 2.1, Carmelo Romano
• MGI ID: MGI:6404921
• Synonyms: C59S
• Gene: Rs1 Location: ChrX:159551009-159582659 bp, + strand Genetic Position: ChrX, 73.95 cM
• Alliance: Rs1^tm2.1Rom page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285517
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A T to A change at position 175 was introduced resulting in a cysteine to serine missense mutation at amino acid 59 using Regeneron's VelociGene technology. A self-excising floxed-hygromycin cassette was removed. (J:285517)

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 Rs1 Mutation: 6 strains or lines available

References

• Original: J:285517 Liu Y, et al., Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype. Hum Mol Genet. 2019 Sep 15;28(18):3072-3090
• All: 1 reference(s)