Twist1^Ska10
Chemically induced Allele Detail

Summary

• Symbol: Twist1^Ska10
• Name: twist basic helix-loop-helix transcription factor 1; skeletal/axial 10
• MGI ID: MGI:3038818
• Synonyms: CC, charlie chaplin, ska^m10Jus, Twist1^Skam10jus
• Gene: Twist1 Location: Chr12:34007670-34009828 bp, + strand Genetic Position: Chr12, 14.81 cM, cytoband B-C1
• Alliance: Twist1^Ska10 page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Mutagenesis for Dev. Defects

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Nucleotide substitutions
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Genomic sequencing revealed a T-to-C base-pair change in that resulted in a p.Ser192Pro amino acid substitution in the Twist box of the encoded protein. A mutant protein is expressed from this allele, but in an immunoprecipitation assay, CC mutant protein interacted poorly with Runx2 compared to the wild-type protein. (J:90056)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

8 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 Twist1 Mutation: 18 strains or lines available

References

• Original: J:89098 The Mouse Genome Project at The Baylor College of Medicine, Heritable mouse mutants from the Mouse Mutagenesis for Developmental Defects Program. MGI Direct Data Submission. 2004-5
• All: 7 reference(s)