Acd^em1Cek
Endonuclease-mediated Allele Detail

Summary

• Symbol: Acd^em1Cek
• Name: adrenocortical dysplasia; endonuclease-mediated mutation 1, Catherine Keegan
• MGI ID: MGI:6864320
• Synonyms: TPP1 K82delta
• Gene: Acd Location: Chr8:106424789-106427748 bp, - strand Genetic Position: Chr8, 53.04 cM
• Alliance: Acd^em1Cek page

Mutation origin

• Strain of Origin: (C57BL/6J x SJL/J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to delete a lysine (K82delta, AAG) and create a silent Kpnl restriction site in exon 3. The mutation is in the TEL patch of Acd (also known as TPP1). The mutation is orthologous to the human K170delta mutation identified in dyskeratosis congenita patients. (J:312923)

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 Acd Mutation: 22 strains or lines available

References

• Original: J:312923 Graniel JV, et al., Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline. Life Sci Alliance. 2022 Jan;5(1)
• All: 1 reference(s)