Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Col4a1Raw
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:	Col4a1Raw page

Strain of Origin:

(C3H/HeN x BALB/cAnN)F1

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)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	77 strains or lines available

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)