About   Help   FAQ
Tmem135fun025
Chemically induced Allele Detail
Summary
Symbol: Tmem135fun025
Name: transmembrane protein 135; fundus mutant 025
MGI ID: MGI:5811600
Gene: Tmem135  Location: Chr7:88788922-89053430 bp, - strand  Genetic Position: Chr7, 49.32 cM, cytoband E1
Alliance: Tmem135fun025 page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen for recessive vison phenotypes at Northwestern University Center for Functional Genomics. A point mutation, T>C, in the splice-donor site adjacent to exon 12 was identified, disrupting the splice donor site and resulting in skipping of exon 12 and a frame shift creating an early stop codon. The c-terminal region is shorter due to the stop codon and this mutation is predicted to abolish the 4th and 5th transmembrane helices and reverse the orientation of the remaining 3 transmembrane helices. (J:237184)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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 Tmem135 Mutation:  55 strains or lines available
References
Original:  J:237184 Lee WH, et al., Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies. Elife. 2016 Nov 15;5:e19264
All:  6 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory