- abnormal interventricular septum morphology / MGI
- persistent truncus arteriosis / MGI
- abnormal semilunar valve morphology / MGI
- abnormal pharyngeal arch morphology / MGI
- double aortic arch / MGI
- absent pharyngeal arch arteries / MGI
- kyphosis / MGI
- kinked tail / MGI
- postnatal lethality / MGI
- abnormal cervical vertebrae morphology / MGI
- curly tail / MGI
- abnormal aortic arch morphology / MGI
- interrupted aortic arch / MGI
- retroesophageal right subclavian artery / MGI
- cervical aortic arch / MGI
- abnormal vertebral arch morphology / MGI
- abnormal cervical atlas morphology / MGI
- abnormal cervical axis morphology / MGI
- fusion of vertebral bodies / MGI
- absent vertebral body / MGI
- abnormal arcus anterior morphology / MGI
- fourth pharyngeal arch hypoplasia / MGI
- fourth pharyngeal arch artery hypoplasia / MGI
B6;129S7-Tbx1tm1(Fgf8)Vite/Cnrm
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 |
Information from provider
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 |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- 22q11.2 deletion syndrome / Orphanet_567
MGI phenotypes (allele matching)
Literature references
- Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants.;Vitelli Francesca, Zhang Zhen, Huynh Tuong, Sobotka Angela, Mupo Annalisa, Baldini Antonio, ;2006;Developmental biology;295;559-70; 16696966
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