Tbx6^em1Fzh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbx6^em1Fzh
• Name: T-box 6; endonuclease-mediated mutation 1, Feng Zhang
• MGI ID: MGI:6368858
• Synonyms: Tbx6^-
• Gene: Tbx6 Location: Chr7:126380655-126384720 bp, + strand Genetic Position: Chr7, 69.25 cM
• Alliance: Tbx6^em1Fzh page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated a 1 bp insertion in exon 2 resulting in a frame shift mutation that leads to premature translational termination damaging the key T-box domain. (J:271649)

Expression

In Structures Affected by this Mutation:

2 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 Tbx6 Mutation: 17 strains or lines available

References

• Original: J:271649 Yang N, et al., TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet. 2019 Feb 15;28(4):539-547
• All: 1 reference(s)