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Tmem161bem1Jgg
Endonuclease-mediated Allele Detail
Summary
Symbol: Tmem161bem1Jgg
Name: transmembrane protein 161B; endonuclease-mediated mutation 1, Joseph G Gleeson
MGI ID: MGI:7519190
Synonyms: L85R-KI
Gene: Tmem161b  Location: Chr13:84370415-84444085 bp, + strand  Genetic Position: Chr13, 44.2 cM
Alliance: Tmem161bem1Jgg page
Mutation
origin
Strain of Origin:  Not Applicable
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence, Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsLeucine codon 85 (CTA) in exon 4 was changed to arginine (CGA) (c.254T>G, p.L85R) using an sgRNA (targeting CAGACTTGGTTTCTAGATGA) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with polymicrogyria (PMG). (J:338312)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Tmem161b Mutation:  55 strains or lines available
References
Original:  J:338312 Wang L, et al., TMEM161B modulates radial glial scaffolding in neocortical development. Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209983120
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