Atrx^em1Tcp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atrx^em1Tcp
• Name: ATRX, chromatin remodeler; endonuclease-mediated mutation 1, The Centre for Phenogenomics
• MGI ID: MGI:7715131
• Synonyms: Atrx^R245C
• Gene: Atrx Location: ChrX:104841221-104972978 bp, - strand Genetic Position: ChrX, 47.26 cM
• Alliance: Atrx^em1Tcp page

Mutation origin

• Strain of Origin: C57BL/6J

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 of arginine with cysteine at position 245 (R245C) and the PAM-abolishing silent mutation (c.729C to T; p.I243I). (J:353476)

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 Atrx Mutation: 79 strains or lines available

References

• Original: J:353476 Tillotson R, et al., A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects. Hum Mol Genet. 2023 Jul 20;32(15):2485-2501
• All: 1 reference(s)