MGI phenotypes (allele matching)
STOCK Pax2Opdc/H
| Status | Available to order |
| EMMA ID | EM:01942 |
| Citation information | RRID:IMSR_EM:01942 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 | STOCK Pax2Opdc/H |
| Alternative name | Opdc (GENA380) |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pax2Opdc |
| Gene/Transgene symbol | Pax2 |
Information from provider
| Provider | Dr Mary Lyon |
| Provider affiliation | MRC Harwell, Didcot, Oxon |
| Genetic information | A single nucleotide change, a T-to-C transition in exon 2 at position 119 causes a non-conservative missense mutation, I40T, exchanging the hydrophobic amino acid isoleucine for the nucleophilic and hydrophilic amino acid threonine. |
| Phenotypic information | Optic disc coloboma. Heterozygotes have enlarged optic discs and retinal vascular abnormalities. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Genetic steroid-resistant nephrotic syndrome / Orphanet_656
- Renal coloboma syndrome / Orphanet_1475
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
- Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848
- The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.;Cross Sally H, McKie Lisa, West Katrine, Coghill Emma L, Favor Jack, Bhattacharya Shoumo, Brown Steve D M, Jackson Ian J, ;2011;Human molecular genetics;20;223-34; 20943750