Tgfbr1^tm1.1Hcd
Targeted Allele Detail

Summary

• Symbol: Tgfbr1^tm1.1Hcd
• Name: transforming growth factor, beta receptor I; targeted mutation 1.1, Harry C Dietz
• MGI ID: MGI:5543795
• Synonyms: Tgfbr1^M318R
• Gene: Tgfbr1 Location: Chr4:47353222-47414926 bp, + strand Genetic Position: Chr4, 26.02 cM
• Alliance: Tgfbr1^tm1.1Hcd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:204960
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Site-directed mutagenesis was performed to substitute methionine 318 with arginine (ATG->CGG; adenine to cytosine, and thymine to guanine at nucleotides 952 and 953 respectively) in exon 5 of the targeted gene. A loxP-flanked neomycin selection cassette was placed in intron 6. Cre-mediated recombination removed the floxed neo cassette. (J:204960)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tgfbr1 Mutation: 36 strains or lines available

References

• Original: J:204960 Gallo EM, et al., Angiotensin II-dependent TGF-beta signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest. 2014 Jan 2;124(1):448-60
• All: 2 reference(s)