Col1a1^{tm1(hs1473-PITX1)Smun}
Targeted Allele Detail

Summary

• Symbol: Col1a1^{tm1(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: Col1a1^{tm1(hs1473-PITX1)Smun} page

Mutation origin

• 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

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Col1a1^{tm1(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)

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• 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: 163 strains or lines available

Notes

C2 (Jaenisch) ES cells are derived from ES cell line v6.5.

References

• 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)