MGI phenotypes (allele matching)
PDT/Pas
| Status | Available to order |
| EMMA ID | EM:01165 |
| International strain name | PDT/Pas |
| Alternative name | polydactyly |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Twist1Pas, |
| Gene/Transgene symbol | Twist1 |
Information from provider
| Provider | Jean-Louis Guénet |
| Provider affiliation | Institut Pasteur |
| Genetic information | This ENU induced mutation was found to be allelic through complementation analysis with a known allele at the Twist1 locus. No sequence alteration was found in the coding region of the gene. A decrease in transcript was noted by in situ hybridization. |
| Phenotypic information | Homozygous mutant embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly and craniofacial defects. |
| Breeding history | Bred by crossing heterozygous and wild-type mice. |
| References |
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Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Saethre-Chotzen syndrome / Orphanet_794
- Isolated scaphocephaly / Orphanet_35093
- Isolated brachycephaly / Orphanet_35099
- Isolated plagiocephaly / Orphanet_35098
Literature references
- A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic expression.;Blanc Isabelle, Bach Antoine, Lallemand Yvan, Perrin-Schmitt Fabienne, Guénet Jean-Louis, Robert Benoît, ;2003;Mammalian genome : official journal of the International Mammalian Genome Society;14;797-804; 14724733