Stock
FESA Number
740
Strain Name
STOCK Col4a1<Raw>/H
Mutation Strain Type
| Mutation Type | Mutation Subtype | Strain Type |
|---|---|---|
| IMSR - Chemically Induced Mutation | IMSR - unclassified |
Attribution
| Institution name | Depositor / Originator | Name |
|---|---|---|
| MRC Mammalian Genetics Unit | Originator | Retained |
| MRC Mammalian Genetics Unit | Depositor | Retained |
Gene/Allele Information
| Allele Name | Allele MGI ID | Gene Name | Gene MGI ID | Chromosome |
|---|---|---|---|---|
| Col4a1<Raw> | MGI:2178446 | Col4a1 | MGI:88454 | 8 |
Phenotypic Description
Retinal ateriolar wiring. Shiny retinal blood vessels.
Orphanet Disorders
| OrphaNet ID | Name | Url |
|---|---|---|
| 799 | Schizencephaly | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=799 |
| 899 | Walker-Warburg syndrome | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=899 |
| 73 229 | Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73229 |
| 36 383 | Familial vascular leukoencephalopathy | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36383 |
| 99 810 | Familial porencephaly | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99810 |
Publications
Displaying 1 - 3 of 3 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 11929848 | Thaung C | Novel ENU-induced eye mutations in the mouse: models for human eye disease. | Hum Mol Genet (2 002) 11:755-67 |
| 20056676 | Van Agtmael T | Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. | Hum Mol Genet (2 010) 19:1119-28 |
| 16159887 | Van Agtmael T | Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. | Hum Mol Genet (2 005) 14:3161-8 |
Orphanet Categories
Rare developmental defect during embryogenesis
Rare neurologic disease
Inborn errors of metabolism
Rare eye disease
Rare renal disease
EMMA ID
EM:00379
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