Stock

FESA Number

642

Strain Name

STOCK Col4a1<Svc>/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<Svc> MGI:2178448 Col4a1 MGI:88454 8

Phenotypic Description

Small with vacuolar cataract. Also other eye abnormalities. Mutants are small and bruised at birth and tend to remain small throughout life. Variable eye findings, the most consistent of which is a vacuolar cataract. Other eye findings include enlarged eyes, corneal opacity, iris-corneal adhesions, iris-lens adhesions, retinal vascular abnormalities.

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 - 4 of 4 Stock Publications
Pubmed ID Authors Title Journal
MouseBookTM Information obtained from MouseBook<sup>TM</sup>, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished (2 005) :
21298098 Taylor SH Tendon is covered by a basement membrane epithelium that is required for cell retention and the prevention of adhesion formation. PLoS One (2 011) 6:e16337
11929848 Thaung C Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet (2 002) 11:755-67
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:00612

Genetic Status

Induced

Background Strain Name

C57BL/6J

Background Strain MGI ID

MGI:3028467

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