B6.129(Cg)-Pax2^tm1Pgr/Kieg

Status	Available to order
EMMA ID	EM:00776
Citation information	RRID:IMSR_EM:00776 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6.129(Cg)-Pax2^tm1Pgr/Kieg
Alternative name	B6.129(Cg)-Pax2/Kieg
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Pax2^tm1Pgr
Gene/Transgene symbol	Pax2

Information from provider

Provider	Peter Gruss
Provider affiliation	Max Planck Inst. Biophysical Chemistry
Genetic information	The Pax2 exon 1 and parts of exon 2 including the ATG are removed upon recombination of 4 kb genomic region 5' of exon 1 and 4 kb genomic region 3' of exon 2, flanking a neo-resistance cassette.
Phenotypic information	Urogenital defects, midbrain-hindbrain boundary affected, optic nerve dysplasia, optic coloboma, exencephalus.
Breeding history	More than 10 backcrosses to C57BL/6.
References	Pax-2 controls multiple steps of urogenital development.;Torres M, Gómez-Pardo E, Dressler G R, Gruss P, ;1995;Development (Cambridge, England);121;4057-65; 8575306 Pax2 contributes to inner ear patterning and optic nerve trajectory.;Torres M, Gómez-Pardo E, Gruss P, ;1996;Development (Cambridge, England);122;3381-91; 8951055 Pax2/5 and Pax6 subdivide the early neural tube into three domains.;Schwarz M, Alvarez-Bolado G, Dressler G, Urbánek P, Busslinger M, Gruss P, ;1999;Mechanisms of development;82;29-39; 10354469 Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6.;Schwarz M, Cecconi F, Bernier G, Andrejewski N, Kammandel B, Wagner M, Gruss P, ;2000;Development (Cambridge, England);127;4325-34; 11003833

Information from EMMA

Archiving centre	Karolinska Institutet, Stockholm, Sweden

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 inner ear morphology / MGI
abnormal cochlea morphology / MGI
decreased cochlear coiling / MGI
exencephaly / MGI
small kidney / MGI
renal hypoplasia / MGI
abnormal kidney calyx morphology / MGI
hearing/vestibular/ear phenotype / MGI
optic nerve coloboma / MGI
decreased nephron number / MGI
kidney cortex hypoplasia / MGI
decreased renal glomerulus number / MGI
abnormal organ of Corti morphology / MGI
abnormal stria vascularis morphology / MGI
abnormal semicircular canal morphology / MGI
absent cochlear ganglion / MGI
abnormal scala media morphology / MGI
abnormal cochlear sensory epithelium morphology / MGI
small vestibular ganglion / MGI
absent vestibular saccule / MGI
abnormal vestibular saccular macula morphology / MGI
abnormal common crus morphology / MGI
abnormal endolymphatic duct morphology / MGI
short endolymphatic duct / MGI
small endolymphatic duct / MGI
abnormal semicircular canal ampulla morphology / MGI
abnormal inner ear vestibule morphology / MGI
abnormal vestibular saccule morphology / MGI
abnormal utricle morphology / MGI
absent organ of Corti / MGI
absent kidney / MGI
abnormal kidney development / MGI
abnormal diencephalon morphology / MGI
incomplete rostral neuropore closure / MGI
abnormal testis morphology / MGI
abnormal eye development / MGI
abnormal optic nerve morphology / MGI
abnormal optic nerve innervation / MGI
abnormal brain morphology / MGI
absent cochlea / MGI
absent vagina / MGI
absent vas deferens / MGI
absent oviduct / MGI
absent seminal vesicle / MGI
abnormal axon extension / MGI
abnormal neural tube closure / MGI
absent ureter / MGI
abnormal optic tract morphology / MGI
abnormal optic stalk morphology / MGI
absent cochlear nerve / MGI
absent epididymis / MGI
absent efferent ductules of testis / MGI
abnormal retinal pigmentation / MGI
coloboma / MGI
Mullerian duct degeneration / MGI
short scala media / MGI
abnormal mesonephros morphology / MGI
Wolffian duct degeneration / MGI
rudimentary Wolffian ducts / MGI
rudimentary Mullerian ducts / MGI
absent uterine horn / MGI
absent optic chiasm / MGI
abnormal intermediate mesoderm / MGI
absent ureteric bud / MGI
abnormal metanephric mesenchyme morphology / MGI
abnormal mesonephric mesenchyme morphology / MGI
absent metanephros / MGI
abnormal optic fissure closure / 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

Pax-2 controls multiple steps of urogenital development.;Torres M, Gómez-Pardo E, Dressler G R, Gruss P, ;1995;Development (Cambridge, England);121;4057-65; 8575306
Pax2 contributes to inner ear patterning and optic nerve trajectory.;Torres M, Gómez-Pardo E, Gruss P, ;1996;Development (Cambridge, England);122;3381-91; 8951055
Pax2/5 and Pax6 subdivide the early neural tube into three domains.;Schwarz M, Alvarez-Bolado G, Dressler G, Urbánek P, Busslinger M, Gruss P, ;1999;Mechanisms of development;82;29-39; 10354469
Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6.;Schwarz M, Cecconi F, Bernier G, Andrejewski N, Kammandel B, Wagner M, Gruss P, ;2000;Development (Cambridge, England);127;4325-34; 11003833

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

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Material Transfer Agreement (MTA)
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B6.129(Cg)-Pax2tm1Pgr/Kieg