C3HeB/FeJ-Jag1Yo/IegWtsiCnbc
Status | Available to order |
EMMA ID | EM:04899 |
International strain name | C3HeB/FeJ-Jag1Yo/IegWtsiCnbc |
Alternative name | Yoyo Jag1 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Jag1Yo, |
Gene/Transgene symbol | Jag1 |
Information from provider
Provider | Karen Steel |
Provider affiliation | Wellcome Trust Sanger Institute |
Additional owner | Prof. M. Hrabé de Angelis, Helmholtz Zentrum München, Neuherberg, Germany |
Genetic information | A new nonsense mutation induced by ENU in Jag1. |
Phenotypic information | A new ENU-induced semi-dominant Jag1 mutation leading to truncation of posterior and/or anterior semicircular canals and reduced rows of outer hair cells in the inner ear in heterozygotes. Homozygotes die in mid-gestation. |
Breeding history | Originated from ENU mutagenesis programme in Helmholtz Zentrum Munich, on a C3HeB/FeJ background and bred on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since. |
References |
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Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Tetralogy of Fallot / Orphanet_3303
- Alagille syndrome due to a JAG1 point mutation / Orphanet_261619
MGI phenotypes (allele matching)
Literature references
- Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects.;Pau Henry, Fuchs Helmut, de Angelis Martin Hrabé, Steel Karen P, ;2005;The Laryngoscope;115;116-24; 15630379
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