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Twist1Ska10
Chemically induced Allele Detail
Nomenclature
Symbol: Twist1Ska10
Name: twist basic helix-loop-helix transcription factor 1; skeletal/axial 10
MGI ID: MGI:3038818
Synonyms: CC, charlie chaplin, skam10Jus, Twist1Skam10jus
Gene: Twist1  Location: Chr12:33957671-33959829 bp, + strand  Genetic Position: Chr12, 14.81 cM, cytoband B-C1
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Mutagenesis for Dev. Defects
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsThis phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Genomic sequencing revealed a T-C base-pair change in that resulted in a 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 8 anatomical structures
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:  9 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2021
MGI 6.16
The Jackson Laboratory