| Status | Available to order |
| EMMA ID | EM:02597 |
| International strain name | B6;129S7-Tbx1tm1(Fgf8)Vite/Cnrm |
| Alternative name | Tbx1fgf8 |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Tbx1tm1(Fgf8)Vite |
| Gene/Transgene symbol | Tbx1 |
| Provider | Antonio BALDINI |
| Provider affiliation | Institute of Genetics and Biophysics (IGB), National Research Council (CNR) |
| Genetic information | An Fgf8 cDNA was knocked-in to the Tbx1 locus so that it is expressed in the Tbx1 expression domain. The insertion also knocks out the Tbx1 allele. |
| Phenotypic information | These animals have the haploinsufficiency phenotype of Tbx1+/- animals (low penetrance of cardiovascular defects) and relatively high penetrance of Fgf8 ectopic expression, which is manifested by a "cork-screw" tail, and that, in most severe cases, may interfere with mating. |
| Breeding history | Sibling crosses. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Orphanet associated rare diseases, based on orthologous gene matching
