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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