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 81 - 90 of 141 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 21418559 | Manuel MN | The transcription factor Foxg1 regulates telencephalic progenitor proliferation cell autonomously, in part by controlling Pax6 expression levels. | Neural Dev (2 011) 6:9 |
| 21264945 | Ceruti S | Expression of the new P2Y-like receptor GPR17 during oligodendrocyte precursor cell maturation regulates sensitivity to ATP-induced death. | Glia (2 011) 59:363-78 |
| 23798316 | Elso C | A reciprocal translocation dissects roles of Pax6 alternative promoters and upstream regulatory elements in the development of pancreas, brain, and eye. | Genesis (2 013) 51:630-46 |
| 7789273 | Grindley JC | The role of Pax-6 in eye and nasal development. | Development (1 995) 121:1433-42 |
| 22071102 | Karus M | The extracellular matrix molecule tenascin C modulates expression levels and territories of key patterning genes during spinal cord astrocyte specification. | Development (2 011) 138:5321-31 |
| 23622063 | Mi D | Pax6 exerts regional control of cortical progenitor proliferation via direct repression of Cdk6 and hypophosphorylation of pRb. | Neuron (2 013) 78:269-84 |
| 23595746 | Roy A | LHX2 is necessary for the maintenance of optic identity and for the progression of optic morphogenesis. | J Neurosci (2 013) 33:6877-84 |
| 9367432 | Stoykova A | Pax6-dependent regulation of adhesive patterning, R-cadherin expression and boundary formation in developing forebrain. | Development (1 997) 124:3765-77 |
| 15269172 | Waclaw RR | The homeobox gene Gsh2 is required for retinoid production in the embryonic mouse telencephalon. | Development (2 004) 131:4013-20 |
| 9363853 | Quinn JC | Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6Sey/Pax6Sey) mice. | Anat Embryol (Berl) (1 997) 196:311-21 |
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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