Tbc1d20^em1Djsi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbc1d20^em1Djsi
• Name: TBC1 domain family, member 20; endonuclease-mediated mutation 1, Duska J Sidjanin
• MGI ID: MGI:7593975
• Synonyms: Tbc1d20^ZFN
• Gene: Tbc1d20 Location: Chr2:152135748-152155916 bp, + strand Genetic Position: Chr2, 74.83 cM, cytoband H1
• Alliance: Tbc1d20^em1Djsi page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: Zinc finger nuclease (ZFN)-mediated genomic editing resulted in a 9 bp deletion (c.418_426del) in exon 4 which produces a mutant protein with an in-frame 3 amino acid deletion (p.H140_Y143del) within a highly conserved TBC domain. (J:315009)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Tbc1d20 Mutation: 20 strains or lines available

References

• Original: J:315009 Park AK, et al., Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. BMC Genet. 2014 Dec 5;15:135
• All: 1 reference(s)