Thbs1em1Rjda
Endonuclease-mediated Allele Detail
|
Symbol: |
Thbs1em1Rjda |
Name: |
thrombospondin 1; endonuclease-mediated mutation 1, Robert J D'Amato |
MGI ID: |
MGI:7518774 |
Synonyms: |
Thbs1R1034C |
Gene: |
Thbs1 Location: Chr2:117942357-117957614 bp, + strand Genetic Position: Chr2, 59.34 cM, cytoband F1-F3
|
Alliance: |
Thbs1em1Rjda page
|
|
|
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)
|
|
|
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: |
69 strains or lines available
|
|
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) |
|