Del(16Pi4ka-Hira)1Atai
Endonuclease-mediated Allele Detail

Summary

• Symbol: Del(16Pi4ka-Hira)1Atai
• Name: deletion, Chr 16, Atsu Aiba 1
• MGI ID: MGI:6729278
• Synonyms: Del(16Pi4ka-Hira)Atai, Del(3.0Mb)
• Gene: Del(16Pi4ka-Hira)1Atai Location: unknown Genetic Position: Chr16, Syntenic

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Intergenic deletion, Intragenic deletion
• Del(16Pi4ka-Hira)1Atai involves 46 genes/genome features (Pi4ka, Serpind1, Snap29 ...) View all
• Mutation details: CRISPR/Cas9 technology was used to delete 3Mb between and including Pi4ka and Hira. This deletion corresponds to the 3Mb deletion seen in individuals with 22q11.2 deletion syndrome. (J:285407)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Del(16Pi4ka-Hira)1Atai Mutation: 0 strains or lines available

References

• Original: J:285407 Saito R, et al., Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus. Transl Psychiatry. 2020 Feb 5;10(1):35
• All: 3 reference(s)