Del(16Arvcf-Txnrd2)1Ssz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Del(16Arvcf-Txnrd2)1Ssz
• Name: Deletion, Chr 16, Stanislav S Zakharenko 1
• MGI ID: MGI:7861778
• Synonyms: Arvcf-Txnrd2
• Gene: Del(16Arvcf-Txnrd2)1Ssz Location: unknown Genetic Position: Chr16, Syntenic

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Intergenic deletion, Intragenic deletion
• Del(16Arvcf-Txnrd2)1Ssz involves 3 genes/genome features (Arvcf, Comt, Txnrd2) View all
• Mutation details: CRISPR/Cas9 technology generated an approximate 32-kb deletion in chromosome 16, between the Arvcf and Txnrd2 genes. The cut site for the 5' sgRNA is within coding exon 3 of Arvcf and the cut site for the 3' sgRNA is within coding exon 2 of Txnrd2. The resulting deletion creates a fusion protein with a premature stop codon to knock-out expression of Arvcf, Comt (completely deleted) and Txnrd2. (J:359574)

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(16Arvcf-Txnrd2)1Ssz Mutation: 0 strains or lines available

References

• Original: J:359574 Eom TY, et al., Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. Nat Commun. 2024 Dec 5;15(1):10510
• All: 1 reference(s)