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 71 - 80 of 141 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 10964956 | Vitalis T | Defect of tyrosine hydroxylase-immunoreactive neurons in the brains of mice lacking the transcription factor Pax6. | J Neurosci (2 000) 20:6501-16 |
| Lo CW | Iontophoretic DNA injections and the production of transgenic mice | Mouse Genome (1 992) 90:684-686 | |
| 18701439 | Carney RS | Differential regulation of telencephalic pallial-subpallial boundary patterning by Pax6 and Gsh2. | Cereb Cortex (2 009) 19:745-59 |
| 10704887 | Dohrmann C | Pax genes and the differentiation of hormone-producing endocrine cells in the pancreas. | Mech Dev (2 000) 92:47-54 |
| 24355924 | Gregory-Evans CY | Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. | J Clin Invest (2 014) 124:111-6 |
| 16866875 | Kanakubo S | Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases. | Genes Cells (2 006) 11:919-33 |
| 22220192 | McBride DJ | DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region. | PLoS One (2 011) 6:e28616 |
| Roberts RC | Small-eyes, a new dominant mutant in the mouse. | Genet Res (1 967) 9:121-122 | |
| 8951061 | Stoykova A | Forebrain patterning defects in Small eye mutant mice. | Development (1 996) 122:3453-65 |
| 19000783 | Vogel T | Expression of Leukaemia associated transcription factor Af9/Mllt3 in the cerebral cortex of the mouse. | Gene Expr Patterns (2 009) 9:83-93 |
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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