- abnormal malleus morphology / MGI
- abnormal pinna reflex / MGI
- decreased cochlear nerve compound action potential / MGI
- conductive hearing loss / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal incus morphology / MGI
- abnormal stapes morphology / MGI
- absent pinna reflex / MGI
- short snout / MGI
- abnormal lens morphology / MGI
- small lens / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- perinatal lethality, complete penetrance / MGI
- narrow snout / MGI
C3HeB/FeJ-Tfap2aMhdador/Ieg
Status | Available to order |
EMMA ID | EM:01705 |
International strain name | C3HeB/FeJ-Tfap2aMhdador/Ieg |
Alternative name | Doarad |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Tfap2aMhdador, |
Gene/Transgene symbol | Tfap2a |
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 | Missense mutation in the transactivation domain of Tfap2a (AP-2alpha) gene. |
Phenotypic information | Middle ear and eye abnormalities; homozygous mice die perinatally. |
Breeding history | More than 3 times backcrossed to C3HeB/FeJ. |
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
Orphanet associated rare diseases, based on orthologous gene matching
- Branchio-oculo-facial syndrome / Orphanet_1297
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
- An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice.;Ahituv Nadav, Erven Alexandra, Fuchs Helmut, Guy Keren, Ashery-Padan Ruth, Williams Trevor, de Angelis Martin Hrabe, Avraham Karen B, Steel Karen P, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;424-32; 15181535
- 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
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