C3HeB/FeJ-Tfap2a^Mhdador/Ieg

Status	Available to order
EMMA ID	EM:01705
International strain name	C3HeB/FeJ-Tfap2a^Mhdador/Ieg
Alternative name	Doarad
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Tfap2a^Mhdador
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	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

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)

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

MGI phenotypes (gene matching)

abnormal malleus morphology / MGI
absent middle ear ossicles / MGI
abnormal neurocranium morphology / MGI
short mandible / MGI
short maxilla / MGI
midline facial cleft / MGI
cleft palate / MGI
absent sternum / MGI
scoliosis / MGI
double outlet right ventricle / MGI
abnormal cell death / MGI
abnormal head morphology / MGI
abnormal cranium morphology / MGI
short snout / MGI
absent snout / MGI
absent mouth / MGI
abnormal maxilla morphology / MGI
abnormal mandible morphology / MGI
absent radius / MGI
polydactyly / MGI
abnormal forebrain morphology / MGI
exencephaly / MGI
cranioschisis / MGI
incomplete rostral neuropore closure / MGI
open neural tube / MGI
abnormal cranial nerve morphology / MGI
absent oculomotor nerve / MGI
abnormal facial nerve morphology / MGI
abnormal cranial ganglia morphology / MGI
small trigeminal ganglion / MGI
abnormal glossopharyngeal ganglion morphology / MGI
abnormal vagus ganglion morphology / MGI
decreased body size / MGI
abnormal lens induction / MGI
abnormal lens vesicle development / MGI
anophthalmia / MGI
abnormal lens morphology / MGI
small lens / MGI
abnormal cornea morphology / MGI
abnormal iris morphology / MGI
abnormal retina morphology / MGI
absent eyelids / MGI
pup cannibalization / MGI
abnormal pinna reflex / MGI
abnormal apoptosis / MGI
abnormal dorsal-ventral axis patterning / MGI
abnormal adrenal gland secretion / MGI
anencephaly / MGI
perinatal lethality / MGI
abnormal axial skeleton morphology / MGI
no abnormal phenotype detected / MGI
persistent truncus arteriosis / MGI
abnormal premaxilla morphology / MGI
abnormal cochlear ganglion morphology / MGI
abnormal vestibular ganglion morphology / MGI
acrania / MGI
absent tympanic ring / MGI
abnormal ventral body wall morphology / MGI
absent pericardium / MGI
abnormal neural tube closure / MGI
abnormal facial morphology / MGI
abnormal craniofacial development / MGI
abnormal aortic arch morphology / MGI
interrupted aortic arch / MGI
retroesophageal right subclavian artery / MGI
abnormal optic stalk morphology / MGI
absent clavicle / MGI
small frontal bone / MGI
absent interparietal bone / MGI
decreased cochlear nerve compound action potential / MGI
absent parietal bone / MGI
small zygomatic bone / MGI
absent nasal bone / MGI
absent maxilla / MGI
abnormal thoracic cage morphology / MGI
splayed ribs / MGI
conductive hearing loss / MGI
abnormal neural fold elevation formation / MGI
abnormal middle ear ossicle morphology / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
abnormal retinal pigment epithelium morphology / MGI
aniridia / MGI
hearing/vestibular/ear phenotype / MGI
endocrine/exocrine gland phenotype / MGI
embryo phenotype / MGI
skeleton phenotype / MGI
absent outer ear / MGI
pulmonary valve stenosis / MGI
pulmonary valve atresia / MGI
abnormal nasal pit morphology / MGI
absent pinna reflex / MGI
absent retinal ganglion layer / MGI
facial cleft / MGI
abnormal lateral nasal prominence morphology / MGI
abnormal medial nasal prominence morphology / MGI
abnormal heart ventricle outflow tract morphology / MGI
abnormal aortic arch development / MGI
ventricular septal defect / MGI
abnormal truncus arteriosus septation / MGI
persistent right dorsal aorta / MGI
abnormal maxillary prominence morphology / MGI
perinatal lethality, complete penetrance / MGI
abnormal optic fissure closure / MGI
abnormal secondary palate morphology / MGI
narrow snout / MGI
thoracoabdominoschisis / 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
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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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-Tfap2aMhdador/Ieg