Tcf4^em1Bdph
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tcf4^em1Bdph
• Name: transcription factor 4; endonuclease-mediated mutation 1, Benjamin D Philpot
• MGI ID: MGI:6157962
• Synonyms: Tcf4^R579W
• Gene: Tcf4 Location: Chr18:69476500-69821038 bp, + strand Genetic Position: Chr18, 43.23 cM, cytoband E2
• Alliance: Tcf4^em1Bdph page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology was used to introduce a single point mutation, an A-to-T transition at position 1135, resulting in an arginine to tryptophan mutation at amino acid 579 (R579W) that corresponds to the most common Pitt-Hopkins Syndrome mutation in humans R580W. (J:254983)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tcf4 Mutation: 58 strains or lines available

References

• Original: J:254983 Thaxton C, et al., Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J Neurosci. 2018 Jan 24;38(4):918-936
• All: 2 reference(s)