Matr3^em1Tcp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Matr3^em1Tcp
• Name: matrin 3; endonuclease-mediated mutation 1, The Centre for Phenogenomics
• MGI ID: MGI:6490339
• Synonyms: Matr3^S85C
• Gene: Matr3 Location: Chr18:35695191-35726888 bp, + strand Genetic Position: Chr18, 19.14 cM, cytoband C
• Alliance: Matr3^em1Tcp 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 G change at position 254 (c.254C>G) that results in serine to cysteine substitution at amino acid 85 (p.S85C). These mice also have two silent mutations (c.261T>C, p.F87 and C.264C>T, p.N88) which prevent re-cleavage of the repaired allele and remove an MseI restriction endonuclease site, allowing for genotyping. (J:298091)

Disease models

Expression

In Mice Carrying this Mutation:	260090 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 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 Matr3 Mutation: 112 strains or lines available

References

• Original: J:298091 Kao CS, et al., Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS. Nat Commun. 2020 Oct 20;11(1):5304
• All: 1 reference(s)