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Tesminem2Qsh
Endonuclease-mediated Allele Detail
Summary
Symbol: Tesminem2Qsh
Name: testis expressed metallothionein like; endonuclease-mediated mutation 2, Qinghua Shi
MGI ID: MGI:7276187
Synonyms: Mtl5c-mu
Gene: Tesmin  Location: Chr19:3438857-3457823 bp, + strand  Genetic Position: Chr19, 3.15 cM, cytoband B
Alliance: Tesminem2Qsh page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Altered localization)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology generated a 76 bp deletion in exon 9 resulting in a C-terminal truncated protein (p.Ser445Argfs*3). This truncation mutation eliminates TESMINs interaction with LIN9 and consequently leads to cytoplasmic retention of TESMIN in pachytene spermatocytes. Western blot analysis confirmed the presence of truncated protein in the testes of homozygous mutant males. (J:324057)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
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 Tesmin Mutation:  23 strains or lines available
References
Original:  J:324057 Zhang X, et al., Nuclear translocation of MTL5 from cytoplasm requires its direct interaction with LIN9 and is essential for male meiosis and fertility. PLoS Genet. 2021 Aug;17(8):e1009753
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
11/12/2024
MGI 6.24
The Jackson Laboratory