C3.Cg-Pax2^1Neu/Ieg

Status	Available to order
EMMA ID	EM:07075
International strain name	C3.Cg-Pax2^1Neu/Ieg
Alternative name	Pax2<1Neu>
Strain type	Spontaneous
Allele/Transgene symbol	Pax2^1Neu
Gene/Transgene symbol	Pax2

Information from provider

Provider	Jack Favor
Provider affiliation	Institute of Human Genetics, Helmholtz Zentrum Muenchen
Genetic information	A frameshift single base insert (G) in the paired box of Pax2 results in premature termination of translation and a Pax2 null mutation. This mouse mutation is an exact model of a human mutant PAX2 family. 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	Heterozygotes: optic disc dysplasia, pre-retinal vascularization, posterior coloboma, cystic kidneys. Homozygotes: deletion of the mid-hindbrain region, inner ear dysmorphology, optic stalk dysmorphology, kidney dysmorphology.
Breeding history	Backcrossed to C3H/HeJ for more than 20 generations.
References	The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.;Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Spörle R, Schughart K, ;1996;Proceedings of the National Academy of Sciences of the United States of America;93;13870-5; 8943028
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

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

renal coloboma syndrome / DOID:0090006

Orphanet associated rare diseases, based on orthologous gene matching

Genetic steroid-resistant nephrotic syndrome / Orphanet_656
Renal coloboma syndrome / Orphanet_1475

MGI phenotypes (allele matching)

abnormal retinal vasculature morphology / MGI
small kidney / MGI
single kidney / MGI
kidney cysts / MGI
abnormal retinal layer morphology / MGI
abnormal retinal neuronal layer morphology / MGI
abnormal retinal nerve fiber layer morphology / MGI
decreased retinal ganglion cell number / MGI
abnormal optic disc morphology / MGI
thin retinal ganglion layer / MGI
pancreatic islet hyperplasia / MGI
increased pancreatic beta cell mass / MGI
increased pancreatic islet number / MGI
increased kidney apoptosis / MGI
absent kidney / MGI
abnormal kidney development / MGI
renal hypoplasia / MGI
kidney medulla hypoplasia / MGI
decreased renal glomerulus number / MGI
impaired branching involved in ureteric bud morphogenesis / MGI
postnatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
decreased nephron number / MGI
abnormal nephrogenic zone morphology / MGI
abnormal ureter morphology / MGI
hydroureter / MGI
vesicoureteral reflux / MGI
bifid ureter / MGI
dilated ureter / MGI
ectopic ureteric bud / MGI
double ureter / MGI
abnormal inner ear morphology / MGI
abnormal choroid plexus morphology / MGI
absent cerebellum / MGI
abnormal midbrain morphology / MGI
abnormal corpora quadrigemina morphology / MGI
abnormal brain development / MGI
exencephaly / MGI
abnormal optic nerve morphology / MGI
delayed neural tube closure / MGI
abnormal vestibulocochlear ganglion morphology / MGI
abnormal ear development / MGI
abnormal optic stalk morphology / MGI
absent utricle / MGI
dilated endolymphatic duct / MGI
absent semicircular canal ampulla / MGI
abnormal metanephric mesenchyme morphology / MGI
absent midbrain-hindbrain boundary / MGI
endocrine/exocrine gland phenotype / MGI
neonatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

abnormal inner ear morphology / MGI
abnormal cochlea morphology / MGI
abnormal inner ear vestibule morphology / MGI
abnormal organ of Corti morphology / MGI
absent organ of Corti / MGI
abnormal stria vascularis morphology / MGI
hydronephrosis / MGI
absent kidney / MGI
abnormal kidney development / MGI
abnormal ureter morphology / MGI
hydroureter / MGI
abnormal choroid plexus morphology / MGI
abnormal diencephalon morphology / MGI
absent cerebellum / MGI
abnormal midbrain morphology / MGI
abnormal corpora quadrigemina morphology / MGI
abnormal brain development / MGI
exencephaly / MGI
incomplete rostral neuropore closure / MGI
abnormal testis morphology / MGI
abnormal eye development / MGI
abnormal retina morphology / MGI
abnormal optic nerve morphology / MGI
abnormal optic nerve innervation / MGI
vesicoureteral reflux / MGI
abnormal eye morphology / MGI
abnormal brain morphology / MGI
abnormal brain commissure morphology / MGI
abnormal semicircular canal morphology / MGI
delayed neural tube closure / MGI
abnormal renal tubule morphology / MGI
abnormal retinal vasculature morphology / MGI
small kidney / MGI
absent cochlear ganglion / MGI
absent cochlea / MGI
decreased cochlear coiling / MGI
abnormal scala media morphology / MGI
abnormal cochlear sensory epithelium morphology / MGI
renal hypoplasia / MGI
absent vagina / MGI
absent vas deferens / MGI
absent uterus / MGI
absent oviduct / MGI
bifid ureter / MGI
dilated ureter / MGI
single kidney / MGI
kidney failure / MGI
kidney medulla hypoplasia / MGI
nervous system phenotype / MGI
absent seminal vesicle / MGI
abnormal axon extension / MGI
kidney cysts / MGI
abnormal vestibulocochlear ganglion morphology / MGI
abnormal neural tube closure / MGI
absent ureter / MGI
abnormal retinal layer morphology / MGI
abnormal ear development / MGI
small vestibular ganglion / MGI
abnormal kidney calyx morphology / MGI
abnormal optic tract morphology / MGI
abnormal optic stalk morphology / MGI
absent vestibular saccule / MGI
abnormal vestibular saccular macula morphology / MGI
absent utricle / MGI
abnormal otolith organ morphology / MGI
decreased renal glomerulus number / MGI
absent cochlear nerve / MGI
absent epididymis / MGI
absent efferent ductules of testis / MGI
abnormal common crus morphology / MGI
impaired branching involved in ureteric bud morphogenesis / MGI
abnormal retinal pigmentation / MGI
abnormal retinal pigment epithelium morphology / MGI
coloboma / MGI
renal/urinary system phenotype / MGI
hearing/vestibular/ear phenotype / MGI
endocrine/exocrine gland phenotype / MGI
reproductive system phenotype / MGI
vision/eye phenotype / MGI
pancreatic islet hyperplasia / MGI
abnormal endolymphatic duct morphology / MGI
dilated endolymphatic duct / MGI
abnormal retinal neuronal layer morphology / MGI
abnormal vestibular saccule morphology / MGI
abnormal utricle morphology / MGI
absent tectum / MGI
abnormal retinal nerve fiber layer morphology / MGI
decreased retinal ganglion cell number / MGI
Mullerian duct degeneration / MGI
short endolymphatic duct / MGI
small endolymphatic duct / MGI
abnormal optic disk morphology / MGI
short scala media / MGI
abnormal mesonephros morphology / MGI
abnormal semicircular canal ampulla morphology / MGI
thin retinal ganglion layer / MGI
Wolffian duct degeneration / MGI
rudimentary Wolffian ducts / MGI
rudimentary Mullerian ducts / MGI
increased pancreatic beta cell mass / MGI
increased pancreatic islet number / MGI
absent uterine horn / MGI
absent semicircular canal ampulla / MGI
absent optic chiasm / MGI
abnormal neural crest morphology / MGI
abnormal retinal blood vessel morphology / MGI
abnormal retinal blood vessel pattern / MGI
abnormal intermediate mesoderm / MGI
optic disk coloboma / MGI
optic nerve coloboma / MGI
absent ureteric bud / MGI
ectopic ureteric bud / MGI
abnormal metanephric mesenchyme morphology / MGI
abnormal mesonephric mesenchyme morphology / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
decreased nephron number / MGI
kidney medulla cysts / MGI
abnormal nephrogenic zone morphology / MGI
kidney cortex hypoplasia / MGI
absent metanephros / MGI
increased kidney apoptosis / MGI
abnormal kidney lobule morphology / MGI
double ureter / MGI
abnormal midbrain-hindbrain boundary morphology / MGI
absent midbrain-hindbrain boundary / MGI
uveal coloboma / MGI
abnormal optic fissure closure / MGI
delayed optic fissure closure / MGI

Literature references

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.;Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Spörle R, Schughart K, ;1996;Proceedings of the National Academy of Sciences of the United States of America;93;13870-5; 8943028

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^*
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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

C3.Cg-Pax21Neu/Ieg