Stock
FESA Number
1589
Strain Name
129.Cg-Pax6<Sey> Tg(Hbb-b1)83Clo/WsH
Mutation Strain Type
Attribution
Gene/Allele Information
| Allele Name | Allele MGI ID | Gene Name | Gene MGI ID | Chromosome |
|---|---|---|---|---|
| Pax6<Sey> | MGI:1856155 | Pax6 | MGI:97490 | 2 |
| Tg(Hbb-b1)83Clo | MGI:2655271 | 3 |
Phenotypic Description
Reiterated transgene is detectable by DNA in situ hybridisation.
Orphanet Disorders
| OrphaNet ID | Name | Url |
|---|---|---|
| 893 | WAGR syndrome | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893 |
| 1 065 | Aniridia - cerebellar ataxia - intellectual deficit | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1065 |
| 2 253 | Foveal hypoplasia - presenile cataract | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2253 |
| 2 334 | Autosomal dominant keratitis | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2334 |
| 137 902 | Isolated optic nerve hypoplasia | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137902 |
| 250 923 | Isolated aniridia | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250923 |
| 708 | Peters anomaly | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=708 |
| 35 737 | Morning glory syndrome | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35737 |
Publications
Displaying 21 - 30 of 141 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 12954718 | Gaufo GO | Hox3 genes coordinate mechanisms of genetic suppression and activation in the generation of branchial and somatic motoneurons. | Development (2 003) 130:5191-201 |
| 12036513 | Hirata T | Mosaic development of the olfactory cortex with Pax6-dependent and -independent components. | Brain Res Dev Brain Res (2 002) 136:17-26 |
| 10821755 | Makarenkova HP | FGF10 is an inducer and Pax6 a competence factor for lacrimal gland development. | Development (2 000) 127:2563-72 |
| 12351726 | Pratt T | Disruption of early events in thalamocortical tract formation in mice lacking the transcription factors Pax6 or Foxg1. | J Neurosci (2 002) 22:8523-31 |
| 19500363 | Simpson TI | Normal ventral telencephalic expression of Pax6 is required for normal development of thalamocortical axons in embryonic mice. | Neural Dev (2 009) 4:19 |
| 23643363 | Tuoc TC | Chromatin regulation by BAF170 controls cerebral cortical size and thickness. | Dev Cell (2 013) 25:256-69 |
| 12648492 | Collinson JM | The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo. | Dev Biol (2 003) 255:303-12 |
| 10764649 | Bishop KM | Regulation of area identity in the mammalian neocortex by Emx2 and Pax6. | Science (2 000) 288:344-9 |
| 12930780 | Corbin JG | Combinatorial function of the homeodomain proteins Nkx2.1 and Gsh2 in ventral telencephalic patterning. | Development (2 003) 130:4895-906 |
| 19723505 | Genethliou N | SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch. | Biochem Biophys Res Commun (2 009) 390:1114-20 |
Pages
Orphanet Categories
Rare developmental defect during embryogenesis
Rare urogenital disease
Rare renal disease
Rare eye disease
Rare endocrine disease
Rare oncologic disease
Rare gynecologic or obstetric disease
Rare neurologic disease
EMMA ID
EM:01891
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