C3HeB/FeJ-Pax6^ADD4802/Ieg

Status	Available to order
EMMA ID	EM:12556
International strain name	C3HeB/FeJ-Pax6^ADD4802/Ieg
Alternative name	ADD4802
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Pax6^ADD4802
Gene/Transgene symbol	Pax6

Information from provider

Provider	Paul B. Selby
Provider affiliation	Biology Division, Oak Ridge National Laboratory
Additional owner	Prof. Dr. Jochen Graw, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Developmental Genetics, Neuherberg/Germany
Genetic information	Dominant mutation in chromosome 2, gene Pax6 (G-->A substitution of the first base of intron 8; additional 11 new aa). Mutation generated by N-ethyl-N-nitrosourea (ENU) Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt.
Phenotypic information	Homozygous: No homozygous mutants, they die during birth Heterozygous: Heterozygotes showed small dense white opacities in the cornea and lens
Breeding history	Kept as heterozygotes
References	Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.;Graw Jochen, Löster Jana, Puk Oliver, Münster Doris, Haubst Nicole, Soewarto Dian, Fuchs Helmut, Meyer Birgit, Nürnberg Peter, Pretsch Walter, Selby Paul, Favor Jack, Wolf Eckhard, Hrabé de Angelis Martin, ;2005;Investigative ophthalmology & visual science;46;4671-83; 16303964
Homozygous fertile	yes
Homozygous viable	no
Homozygous matings required	not known
Immunocompromised	not known

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

Isolated aniridia / Orphanet_250923
Autosomal dominant keratitis / Orphanet_2334
Coloboma of eyelid / Orphanet_98946
Coloboma of optic disc / Orphanet_98947
Peters anomaly / Orphanet_708
Coloboma of iris / Orphanet_98944
Coloboma of macula / Orphanet_98945
Coloboma of choroid and retina / Orphanet_98942
Isolated optic nerve hypoplasia/aplasia / Orphanet_137902
Coloboma of eye lens / Orphanet_98943
Foveal hypoplasia-presenile cataract syndrome / Orphanet_2253
Aniridia-cerebellar ataxia-intellectual disability syndrome / Orphanet_1065

IMPC phenotypes (gene matching)

abnormal craniofacial morphology / IMPC
microphthalmia / IMPC
anophthalmia / IMPC
abnormal liver morphology / IMPC
abnormal placenta morphology / IMPC
cleft palate / IMPC
hyperactivity / IMPC
corneal vascularization / IMPC
abnormal eye morphology / IMPC
cataract / IMPC
preweaning lethality, complete penetrance / IMPC
developmental dysplasia / IMPC
corneal opacity / IMPC
facial cleft / IMPC
abnormal placenta vasculature / IMPC
abnormal brain morphology / IMPC
small liver / IMPC

MGI phenotypes (gene matching)

small ears / MGI
lowered ear position / MGI
abnormal nasal bone morphology / MGI
belly spot / MGI
abnormal craniofacial morphology / MGI
short snout / MGI
absent snout / MGI
abnormal forebrain morphology / MGI
telencephalon hypoplasia / MGI
abnormal telencephalon morphology / MGI
abnormal cerebral cortex morphology / MGI
abnormal diencephalon morphology / MGI
abnormal cerebellum morphology / MGI
abnormal cerebellum vermis morphology / MGI
abnormal cerebellum external granule cell layer morphology / MGI
ectopic Purkinje cell / MGI
abnormal brain development / MGI
exencephaly / MGI
abnormal telencephalon development / MGI
decreased body length / MGI
decreased body size / MGI
abnormal eye development / MGI
abnormal lens induction / MGI
abnormal lens vesicle development / MGI
anophthalmia / MGI
microphthalmia / MGI
abnormal lens morphology / MGI
cataract / MGI
small lens / MGI
fused cornea and lens / MGI
abnormal cornea morphology / MGI
corneal opacity / MGI
abnormal pupil morphology / MGI
irregularly shaped pupil / MGI
abnormal iris morphology / MGI
abnormal retina morphology / MGI
abnormal optic nerve morphology / MGI
abnormal lacrimal gland morphology / MGI
decreased embryo size / MGI
reduced female fertility / MGI
abnormal pancreas morphology / MGI
respiratory failure / MGI
blindness / MGI
neoplasm / MGI
increased tumor incidence / MGI
premature death / MGI
abnormal eye morphology / MGI
abnormal craniofacial bone morphology / MGI
no abnormal phenotype detected / MGI
abnormal brain commissure morphology / MGI
abnormal CNS synaptic transmission / MGI
abnormal nose morphology / MGI
abnormal nasal cavity morphology / MGI
increased intestinal adenoma incidence / MGI
mydriasis / MGI
abnormal eye size / MGI
abnormal vitreous body morphology / MGI
abnormal lens fiber morphology / MGI
white spotting / MGI
aphakia / MGI
abnormal cornea anterior stroma morphology / MGI
abnormal respiratory system development / MGI
abnormal forebrain development / MGI
abnormal lens epithelium morphology / MGI
abnormal optic vesicle formation / MGI
absent olfactory bulb / MGI
nervous system phenotype / MGI
abnormal synaptic transmission / MGI
abnormal retinal photoreceptor layer morphology / MGI
abnormal facial morphology / MGI
abnormal submandibular gland morphology / MGI
abnormal craniofacial development / MGI
abnormal hormone level / MGI
abnormal cerebellar granule cell morphology / MGI
abnormal spinal cord interneuron morphology / MGI
abnormal pallium development / MGI
decreased fetal size / MGI
abnormal iridocorneal angle / MGI
abnormal optic cup morphology / MGI
abnormal embryonic/fetal subventricular zone morphology / MGI
abnormal postnatal subventricular zone morphology / MGI
abnormal maxillary shelf morphology / MGI
abnormal nasal capsule morphology / MGI
increased susceptibility to induced pancreatitis / MGI
abnormal neuron physiology / MGI
abnormal neuronal precursor proliferation / MGI
decreased circulating growth hormone level / MGI
decreased adrenocorticotropin level / MGI
decreased eye pigmentation / MGI
abnormal anterior eye segment morphology / MGI
abnormal retinal pigment epithelium morphology / MGI
abnormal eye anterior chamber morphology / MGI
abnormal olfactory nerve morphology / MGI
abnormal retinal ganglion layer morphology / MGI
aniridia / MGI
coloboma / MGI
impaired glucose tolerance / MGI
abnormal corneal stroma morphology / MGI
abnormal corneal endothelium morphology / MGI
renal/urinary system phenotype / MGI
craniofacial phenotype / MGI
vision/eye phenotype / MGI
hypopigmentation / MGI
corneal vascularization / MGI
abnormal lens development / MGI
abnormal corneal epithelium morphology / MGI
iris hypoplasia / MGI
thin cerebral cortex / MGI
absent nasal placodes / MGI
abnormal cortical plate morphology / MGI
thin cortical plate / MGI
abnormal cortical ventricular zone morphology / MGI
abnormal Bowman membrane / MGI
abnormal olfactory epithelium morphology / MGI
absent pancreatic beta cells / MGI
absent pancreatic alpha cells / MGI
disorganized pancreatic islets / MGI
delayed eyelid fusion / MGI
submandibular gland hypoplasia / MGI
abnormal pretectal region morphology / MGI
decreased birth body size / MGI
absent lens vesicle / MGI
abnormal retinal development / MGI
eye opacity / MGI
abnormal lateral nasal prominence morphology / MGI
abnormal medial nasal prominence morphology / MGI
abnormal neuron differentiation / MGI
anterior polar cataracts / MGI
increased alimentary system tumor incidence / MGI
increased stomach tumor incidence / MGI
corneal-lenticular stalk / MGI
postnatal lethality, complete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
perinatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality, complete penetrance / MGI
embryonic lethality between implantation and somite formation, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality, incomplete penetrance / MGI
embryonic lethality before implantation, incomplete penetrance / MGI
anterior iris synechia / MGI
abnormal endocrine pancreas development / MGI
abnormal optic placode morphology / MGI
absent external nares / MGI
small thalamus / MGI
decreased corneal epithelium thickness / MGI
absent nasal pit / MGI
abnormal face development / MGI

Literature references

Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.;Graw Jochen, Löster Jana, Puk Oliver, Münster Doris, Haubst Nicole, Soewarto Dian, Fuchs Helmut, Meyer Birgit, Nürnberg Peter, Pretsch Walter, Selby Paul, Favor Jack, Wolf Eckhard, Hrabé de Angelis Martin, ;2005;Investigative ophthalmology & visual science;46;4671-83; 16303964

Information on how we integrate external resources can be found here

Order

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^*

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-Pax6ADD4802/Ieg