Tgfbr1^tm1Karl
Targeted Allele Detail

Summary

• Symbol: Tgfbr1^tm1Karl
• Name: transforming growth factor, beta receptor I; targeted mutation 1, Stefan Karlsson
• MGI ID: MGI:2388050
• Synonyms: Alk5-, TbetaRI^-
• Gene: Tgfbr1 Location: Chr4:47353258-47414926 bp, + strand Genetic Position: Chr4, 26.02 cM
• Alliance: Tgfbr1^tm1Karl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:68770
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A single loxP site remained in place of exon 3 after an upstream floxed neo cassette and downstream loxP site were recombined by transient expression of cre recombinase in targeted ES cells. The mutation results in deletion of the transmembrane domain and the GS domain required for protein function. Northern blot analysis using a full-length cDNA probe did not detect transcripts in endothelial cells from homozygous mutant embryos. (J:68770)

Expression

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	8 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 Tgfbr1 Mutation: 36 strains or lines available

Notes

ES cell line = R1 ((129X1/SvJ x 129S1/Sv)F1-Kitl⁺) or GS (129S6/SvEvTac).

References

• Original: J:68770 Larsson J, et al., Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice. EMBO J. 2001 Apr 2;20(7):1663-73
• All: 21 reference(s)