- 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
C3.Cg-Pax21Neu/Ieg
Status | Available to order |
EMMA ID | EM:07075 |
International strain name | C3.Cg-Pax21Neu/Ieg |
Alternative name | Pax2<1Neu> |
Strain type | Spontaneous |
Allele/Transgene symbol | Pax21Neu, |
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 |
|
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
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)
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
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