Twist1^m1Yiji
Chemically induced Allele Detail

Summary

• Symbol: Twist1^m1Yiji
• Name: twist basic helix-loop-helix transcription factor 1; mutation 1, Yichang Jia
• MGI ID: MGI:8409643
• Synonyms: Twist1-F191S
• Gene: Twist1 Location: Chr12:34007670-34009828 bp, + strand Genetic Position: Chr12, 14.81 cM, cytoband B-C1
• Alliance: Twist1^m1Yiji page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Dominant negative)
• Mutation: Single point mutation
• Mutation details:

  ENU mutagenesis induced a c.572 T>C mutation that changes phenylalanine codon 191 (TTC) to serine (TCT) (NP_035788.1:p.F191S). The mutation, in the trans-activating domain of the encoded protein, leads to hindlimb polydactyly, mild craniofacial malformations and impaired social novelty behavior. (J:285540)

Disease models

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 Twist1 Mutation: 20 strains or lines available

References

• Original: J:285540 Chen RZ, et al., An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription. Sci Rep. 2020 Feb 12;10(1):2501
• All: 1 reference(s)