Col4a1<Raw> Chemically induced Allele Detail MGI Mouse (MGI:2178446)

Col4a1^Raw
Chemically induced Allele Detail

Summary

Symbol:	Col4a1^Raw
Name:	collagen, type IV, alpha 1; retinal arteriolar wiring
MGI ID:	MGI:2178446
Synonyms:	Gena257, GENA 257
Gene:	Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
Alliance:	Col4a1^Raw page

Mutation
origin

Strain of Origin:

(C3H/HeN x BALB/cAnN)F1

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: ENU mutagenesis resulted in an A>G point mutation in exon 34, resulting in the replacement of a positively charged lysine residue, located at the Yaa position (950), with a negatively charged glutamic acid (p.K950E). As it is located in the first Gly-Xaa-Yaa repeat following a major interruption of the repeats by non-repeat sequence, it may affect the structure at this highly flexible site. (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:	4 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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