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Matr3em1Tcp
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Matr3em1Tcp
Name: matrin 3; endonuclease-mediated mutation 1, Toronto Centre for Phenogenomics
MGI ID: MGI:6490339
Synonyms: Matr3S85C
Gene: Matr3  Location: Chr18:35562158-35592045 bp, + strand  Genetic Position: Chr18, 19.14 cM, cytoband C
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  71 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory