Tgfbr1^tm1.1Sya
Targeted Allele Detail

Summary

• Symbol: Tgfbr1^tm1.1Sya
• Name: transforming growth factor, beta receptor I; targeted mutation 1.1, Satoru Yamada
• MGI ID: MGI:7431255
• Synonyms: Tgfbr1^G188V
• Gene: Tgfbr1 Location: Chr4:47353258-47414926 bp, + strand Genetic Position: Chr4, 26.02 cM
• Alliance: Tgfbr1^tm1.1Sya page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:325431
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to T change a position 563 (c.563G>T) resulting in a glycine to valine substitution at codon 188 (p.G188V) was introduced in exon 3 along with a floxed neomycin resistance cassette downstream of exon 3. The neomycin resistance cassette was removed via cre-mediated recombination. This is a missense mutation identified in a patient with Loeys-Dietz syndrome showing severe periodontitis. (J:325431)

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: 32 strains or lines available

References

• Original: J:325431 Yamada S, et al., Mouse Model of Loeys-Dietz Syndrome Shows Elevated Susceptibility to Periodontitis via Alterations in Transforming Growth Factor-Beta Signaling. Front Physiol. 2021;12:715687
• All: 1 reference(s)