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 31 - 40 of 141 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 3794606 | Hogan BL | Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. | J Embryol Exp Morphol (1 986) 97:95-110 |
| 18507827 | Manuel M | Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. | BMC Dev Biol (2 008) 8:59 |
| 4426343 | Pritchard DJ | Abnormal lens capsule carbohydrate associated with the dominant gene "small-eye" in the mouse. | Exp Eye Res (1 974) 19:335-40 |
| 19666824 | Smith AN | Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis. | Development (2 009) 136:2977-85 |
| 12764036 | Tyas DA | Pax6 regulates cell adhesion during cortical development. | Cereb Cortex (2 003) 13:612-9 |
| 8290590 | Ioffe E | Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates. | Proc Natl Acad Sci U S A (1 994) 91:728-32 |
| 17064680 | Blixt A | Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage. | Dev Biol (2 007) 302:218-29 |
| 17942732 | Costa MR | The marginal zone/layer I as a novel niche for neurogenesis and gliogenesis in developing cerebral cortex. | J Neurosci (2 007) 27:11376-88 |
| 19258013 | Genethliou N | Spatially distinct functions of PAX6 and NKX2.2 during gliogenesis in the ventral spinal cord. | Biochem Biophys Res Commun (2 009) 382:69-73 |
| Hogan BL | Allelism of small eyes (Sey) with Dickie's small eye (Dey) on Chromosome 2. | Mouse News Lett (1 987) 77:135-8 |
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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