Thbs1^em1Rjda
Endonuclease-mediated Allele Detail

Summary

• Symbol: Thbs1^em1Rjda
• Name: thrombospondin 1; endonuclease-mediated mutation 1, Robert J D'Amato
• MGI ID: MGI:7518774
• Synonyms: Thbs1^R1034C
• Gene: Thbs1 Location: Chr2:117942357-117957614 bp, + strand Genetic Position: Chr2, 59.34 cM, cytoband F1-F3
• Alliance: Thbs1^em1Rjda page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change (g.118123372C>T) resulting in an arginine to cysteine substitution at amino acid 1034 (p.R1034C). Missense alleles altering p.R1034 have been identified in families affected by congenital glaucoma. (J:338944)

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 Thbs1 Mutation: 71 strains or lines available

References

• Original: J:338944 Fu H, et al., Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma. J Clin Invest. 2022 Dec 1;132(23)
• All: 1 reference(s)