Tgfbr2^tm1.1Hcd
Targeted Allele Detail

Summary

• Symbol: Tgfbr2^tm1.1Hcd
• Name: transforming growth factor, beta receptor II; targeted mutation 1.1, Harry C Dietz
• MGI ID: MGI:5543796
• Synonyms: Tgfbr2^G357W
• Gene: Tgfbr2 Location: Chr9:115916763-116004431 bp, - strand Genetic Position: Chr9, 68.39 cM
• Alliance: Tgfbr2^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 glycine 358 with tryptophan (GGC->TGG; guanine to thymine and cytosine to guanine at nucleotides 1069 and 1071 respectively) in exon 4 of the targeted gene. A loxP-flanked neomycin selection cassette was placed in intron 3. Cre-mediated recombination removed the floxed neo cassette. (J:204960)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Tgfbr2 Mutation: 40 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: 3 reference(s)