Amotl1^em1Rstot
Endonuclease-mediated Allele Detail

Summary

• Symbol: Amotl1^em1Rstot
• Name: angiomotin-like 1; endonuclease-mediated mutation 1, Rolf Stottmann
• MGI ID: MGI:6276189
• Synonyms: Amotl1^R157C
• Gene: Amotl1 Location: Chr9:14453262-14556352 bp, - strand Genetic Position: Chr9, 4.12 cM, cytoband A3
• Alliance: Amotl1^em1Rstot page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details:

  Exon 3 was targeted using an sgRNA and an ssODN template with CRISPR/Cas9 technology to change arginine (TCG) codon 157 to cysteine (TCT) (p.R157C) and to introduce several silent mutation. The mutation, in a highly conserved region of the encoded protein, is the equivalent of the same human mutation associated with a novel craniofacial syndrome with associated heart defects and tall stature. (J:270029)

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 Amotl1 Mutation: 54 strains or lines available

References

• Original: J:270029 Liegel RP, et al., Using human sequencing to guide craniofacial research. Genesis. 2019 Jan;57(1):e23259
• All: 1 reference(s)