MGI phenotypes (allele matching)
C3HeB/FeJ-Jag1Yo/IegWtsiCnbc
| Status | Available to order |
| EMMA ID | EM:04899 |
| Citation information | RRID:IMSR_EM:04899 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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 |
|
| 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 (gene matching)
- abnormal organ of Corti morphology / MGI
- abnormal vascular development / MGI
- enlarged pericardium / MGI
- distended pericardium / MGI
- corneal opacity / MGI
- irregularly shaped pupil / MGI
- head bobbing / MGI
- impaired balance / MGI
- abnormal blood vessel morphology / MGI
- pale yolk sac / MGI
- hemorrhage / MGI
- intracranial hemorrhage / MGI
- abnormal eye morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal semicircular canal morphology / MGI
- abnormal cochlear hair cell morphology / MGI
- head shaking / MGI
- abnormal posterior semicircular canal morphology / MGI
- no phenotypic analysis / MGI
- abnormal superior semicircular canal morphology / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal cochlear sensory epithelium morphology / MGI
- kinked neural tube / MGI
- embryonic growth retardation / MGI
- abnormal vitelline vascular remodeling / MGI
- abnormal crista ampullaris morphology / MGI
- increased cochlear inner hair cell number / MGI
- decreased cochlear outer hair cell number / MGI
- decreased neuronal precursor cell number / MGI
- head tossing / MGI
- positive geotaxis / MGI
- hearing/vestibular/ear phenotype / MGI
- embryonic lethality during organogenesis / MGI
- abnormal placement of pupils / MGI
- abnormal semicircular canal ampulla morphology / MGI
- increased neuron number / MGI
- abnormal neuron differentiation / MGI
- iris coloboma / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- embryo tissue necrosis / MGI
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