Tmem135^fun025
Chemically induced Allele Detail

Summary

• Symbol: Tmem135^fun025
• 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: Tmem135^fun025 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This 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

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: 52 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)