- 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
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 |
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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)
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
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