IMPC phenotypes (gene matching)
C3HeB/FeJ-Ednram1Mhda/Ieg
| Status | Available to order |
| EMMA ID | EM:01675 |
| International strain name | C3HeB/FeJ-Ednram1Mhda/Ieg |
| Alternative name | AEA001 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Ednram1Mhda |
| Gene/Transgene symbol | Ednra |
Information from provider
| Provider | Martin Hrabe de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | Abnormal ear |
| Phenotypic information | Abnormal ear |
| References |
|
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Mandibulofacial dysostosis with alopecia / Orphanet_443995
MGI phenotypes (allele matching)
- abnormal malleus morphology / MGI
- short mandible / MGI
- malocclusion / MGI
- abnormal cranium morphology / MGI
- decreased startle reflex / MGI
- abnormal respiration / MGI
- abnormal vital capacity / MGI
- abnormal inspiratory capacity / MGI
- micrognathia / MGI
- abnormal zygomatic bone morphology / MGI
- impaired hearing / MGI
- decreased prepulse inhibition / MGI
- integument phenotype / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal incudomalleolar joint morphology / MGI
- abnormal temporal bone zygomatic process morphology / MGI
- abnormal temporal bone petrous part morphology / MGI
- absent incus short process / MGI
- absent temporal bone zygomatic process / MGI
- abnormal ear shape / MGI
- lowered ear position / MGI
- shortened head / MGI
- short snout / MGI
- abnormal jaw morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- macrophthalmia / MGI
- abnormal zygomatic arch morphology / MGI
- abnormal mandibular condyloid process morphology / MGI
- conductive hearing loss / MGI
- abnormal orbit morphology / MGI
- decreased lung compliance / MGI
- decreased total lung capacity / MGI
- abnormal temporomandibular joint morphology / MGI
- round face / MGI
- abnormal outer ear helix morphology / MGI
- round orbits / MGI
- prominent cheeks / MGI
- wide coronal suture / MGI
- wide sagittal suture / MGI
- wide lambdoid suture / MGI
MGI phenotypes (gene matching)
- abnormal ear shape / MGI
- lowered ear position / MGI
- abnormal malleus morphology / MGI
- short mandible / MGI
- abnormal sphenoid bone morphology / MGI
- abnormal basisphenoid bone morphology / MGI
- cleft chin / MGI
- malocclusion / MGI
- abnormal heart morphology / MGI
- abnormal heart development / MGI
- overriding aortic valve / MGI
- double outlet right ventricle / MGI
- shortened head / MGI
- abnormal cranium morphology / MGI
- short snout / MGI
- abnormal mouth morphology / MGI
- abnormal jaw morphology / MGI
- abnormal maxilla morphology / MGI
- abnormal mandible morphology / MGI
- mandible hypoplasia / MGI
- absent salivary gland / MGI
- abnormal trigeminal nerve morphology / MGI
- abnormal mandibular nerve branching / MGI
- abnormal facial nerve morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- absent vibrissae / MGI
- macrophthalmia / MGI
- eyelids open at birth / MGI
- decreased startle reflex / MGI
- thymus hypoplasia / MGI
- abnormal respiration / MGI
- abnormal muscle morphology / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal cardiovascular system morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal outer ear morphology / MGI
- abnormal artery morphology / MGI
- abnormal vital capacity / MGI
- abnormal inspiratory capacity / MGI
- abnormal pulmonary ventilation / MGI
- persistent truncus arteriosis / MGI
- micrognathia / MGI
- abnormal pharyngeal arch artery morphology / MGI
- ectopic thymus / MGI
- abnormal hyoid bone morphology / MGI
- absent tympanic ring / MGI
- patent ductus arteriosus / MGI
- abnormal alisphenoid bone morphology / MGI
- anteriorly rotated ears / MGI
- abnormal palate morphology / MGI
- transposition of great arteries / MGI
- double aortic arch / MGI
- abnormal carotid artery morphology / MGI
- abnormal alveolar process morphology / MGI
- absent stapes / MGI
- abnormal masseter muscle morphology / MGI
- absent incus / MGI
- absent malleus / MGI
- abnormal temporal bone squamous part morphology / MGI
- absent Meckel's cartilage / MGI
- abnormal pterygoid process morphology / MGI
- small zygomatic bone / MGI
- abnormal zygomatic arch morphology / MGI
- abnormal mandibular condyloid process morphology / MGI
- conductive hearing loss / MGI
- abnormal dorsal aorta morphology / MGI
- absent temporal bone squamous part / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal stapes morphology / MGI
- abnormal palatine bone morphology / MGI
- abnormal zygomatic bone morphology / MGI
- abnormal temporal bone morphology / MGI
- abnormal heart ventricle morphology / MGI
- craniofacial phenotype / MGI
- abnormal skeleton morphology / MGI
- abnormal Meckel's cartilage morphology / MGI
- absent tympanic membrane / MGI
- impaired hearing / MGI
- abnormal first pharyngeal arch morphology / MGI
- small second pharyngeal arch / MGI
- abnormal fourth pharyngeal arch artery morphology / MGI
- abnormal sixth pharyngeal arch artery morphology / MGI
- abnormal third pharyngeal arch artery morphology / MGI
- abnormal styloid process morphology / MGI
- abnormal gonial bone morphology / MGI
- absent gonial bone / MGI
- decreased prepulse inhibition / MGI
- absent submandibular gland / MGI
- abnormal mandibular nerve morphology / MGI
- abnormal ascending aorta morphology / MGI
- tongue hypoplasia / MGI
- abnormal orbit morphology / MGI
- abnormal mandibular ramus morphology / MGI
- perimembraneous ventricular septal defect / MGI
- aberrant origin of the right subclavian artery / MGI
- absent right subclavian artery / MGI
- aorta tubular hypoplasia / MGI
- interrupted aorta / MGI
- persistent right dorsal aorta / MGI
- integument phenotype / MGI
- decreased lung compliance / MGI
- decreased total lung capacity / MGI
- perinatal lethality, complete penetrance / MGI
- abnormal temporomandibular joint morphology / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal mouth floor morphology / MGI
- round face / MGI
- abnormal outer ear helix morphology / MGI
- round orbits / MGI
- abnormal incudomalleolar joint morphology / MGI
- incudomalleolar fusion / MGI
- absent tubotympanic recess / MGI
- prominent cheeks / MGI
- small mandibular condyloid process / MGI
- abnormal temporal bone zygomatic process morphology / MGI
- short mandibular coronoid process / MGI
- lower jaw to upper jaw transformation / MGI
- upper jaw to lower jaw transformation / MGI
- abnormal temporal bone petrous part morphology / MGI
- short styloid process / MGI
- wide coronal suture / MGI
- wide sagittal suture / MGI
- wide lambdoid suture / MGI
- absent incus short process / MGI
- absent temporal bone zygomatic process / MGI
Literature references
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
- Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.;Sabrautzki Sibylle, Sandholzer Michael A, Lorenz-Depiereux Bettina, Brommage Robert, Przemeck Gerhard, Vargas Panesso Ingrid L, Vernaleken Alexandra, Garrett Lillian, Baron Katharina, Yildirim Ali O, Rozman Jan, Rathkolb Birgit, Gau Christine, Hans Wolfgang, Hoelter Sabine M, Marschall Susan, Stoeger Claudia, Becker Lore, Fuchs Helmut, Gailus-Durner Valerie, Klingenspor Martin, Klopstock Thomas, Lengger Christoph, Stefanie Leuchtenberger, Wolf Eckhard, Strom Tim M, Wurst Wolfgang, de Angelis Martin Hrabě, ;2016;Mammalian genome : official journal of the International Mammalian Genome Society;27;587-598; 27671791