Col4a1<Svc> Chemically induced Allele Detail MGI Mouse (MGI:2178448)

Col4a1^Svc
Chemically induced Allele Detail

Summary

Symbol:	Col4a1^Svc
Name:	collagen, type IV, alpha 1; small with vacuolar cataract
MGI ID:	MGI:2178448
Synonyms:	Col4a1^G1064D, Gena291, GENA 291
Gene:	Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
Alliance:	Col4a1^Svc page

Mutation
origin

Strain of Origin:	(C3H/HeN x BALB/cAnN)F1
Project Collection:	Harwell ENU Mutagenesis

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: ENU mutagenesis resulted in an G>A point mutation in exon 37 resulting in the substitution of the critical glycine residue with an aspartic acid at position 1064 (p.G1064D). The mutation is predicted to result in severe detrimental effects on collagen triple helix formation and stability. (J:102749)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Col4a1 Mutation:	78 strains or lines available

References

Original:	J:75964 Thaung C, et al., Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67
All:	8 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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