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

Symbol:	Col1a1tm1(hs1473-PITX1)Smun
Name:	collagen, type I, alpha 1; targeted mutation 1, Stefan Mundlos
MGI ID:	MGI:5529077
Gene:	Col1a1  Location: Chr11:94827050-94843868 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Alliance:	Col1a1tm1(hs1473-PITX1)Smun page

Germline Transmission:	Earliest citation of germline transmission: J:203670
Parent Cell Line:	C2 (Jaenisch) (ES Cell)
Strain of Origin:	(C57BL/6 x 129S4/SvJae)F1

Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Col1a1tm1(hs1473-PITX1)Smun expresses 1 gene Knock-in expresses: Organism Expressed Gene Homolog in Mouse Note human PITX1 (5307) Pitx1  (MGI:107374)   Mutation details: A PGK-ATG-FRT vector, containing a hygromycin resistance gene, introduced the hs1473 enhancer region upstream of the human PITX1 minigene driven by the Hspa1b (Hsp68) minimal promoter. (J:203670)

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

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:203670 Spielmann M, et al., Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am J Hum Genet. 2012 Oct 5;91(4):629-35
All:	1 reference(s)