Tgfbr2^em1Rstot
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tgfbr2^em1Rstot
• Name: transforming growth factor, beta receptor II; endonuclease-mediated mutation 1, Rolf Stottmann
• MGI ID: MGI:7623146
• Synonyms: Tgfbr2^V387M
• Gene: Tgfbr2 Location: Chr9:115916763-116004431 bp, - strand Genetic Position: Chr9, 68.39 cM
• Alliance: Tgfbr2^em1Rstot page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced the mutation responsible for the amino acid substitution valine with methionine at position 387 (V387M). (J:367798)

Disease models

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 Tgfbr2 Mutation: 40 strains or lines available

References

• Original: J:367798 Michaels JR, et al., Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate. PLoS One. 2025;20(6):e0324803
• All: 1 reference(s)