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Chemically induced Allele Detail
Symbol: Tmem135fun025
Name: transmembrane protein 135; fundus mutant 025
MGI ID: MGI:5811600
Gene: Tmem135  Location: Chr7:89139714-89404222 bp, - strand  Genetic Position: Chr7, 49.32 cM, cytoband E1
Strain of Origin:  C57BL/6J
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
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:  13 strains or lines available
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
All:  1 reference(s)

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