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

Symbol:	Col1a1tm1Dab
Name:	collagen, type I, alpha 1; targeted mutation 1, David A Brenner
MGI ID:	MGI:4948122
Synonyms:	5'-UTR SL
Gene:	Col1a1  Location: Chr11:94827050-94843868 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Alliance:	Col1a1tm1Dab page

Germline Transmission:	Earliest citation of germline transmission: J:170561
Parent Cell Line:	TC1/TC-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Hypomorph) Mutation:    Insertion   Mutation details: A floxed neo cassette was inserted between exon 1 and 2. This insertion is predicted to prevent formation of the 5' UTR stem-loop structure within intron 1. Reduced protein expression was confirmed by western blot analysis on mouse embryonic fibroblast extracts. (J:170561)

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: 0 strains available      Cell Lines: 0 lines available
Carrying any Col1a1 Mutation:	160 strains or lines available

Original:	J:170561 Parsons CJ, et al., Mutation of the 5'-untranslated region stem-loop structure inhibits alpha1(I) collagen expression in vivo. J Biol Chem. 2011 Mar 11;286(10):8609-19
All:	1 reference(s)