Nomenclature: C57BL/6NTac-Atp7b^{em7617(ATP7B*H1069Q)Tac}

• The targeting strategy allows the generation of a constitutive humanization of the Atp7b gene via easiCRISPR/Cas9-mediated gene editing.
• The targeting strategy is based on NCBI transcripts NM_007511.2 (mouse) and NM_000053.4 (human) (see above).
• Exon 1 contains the translation initiation codon.
• Mouse genomic sequence from the codon I1034 in exon 14 to the codon E1088 in exon 15 has been replaced with its human counterpart (see alignment above).
• The point mutation H1069Q (rs76151636; according to the human annotation) has been inserted into human exon 14.
• The Cas9 protein, gRNAs, and single-stranded DNA (ssDNA) will be injected into C57BL/6NTac zygotes.
• The humanized allele is obtained after Cas9-mediated gene editing. The chimeric mouse-human ATP7B gene will be expressed under the control of the endogenous mouse Atp7b promoter and should thus recapitulate the expression pattern of the mouse Atp7b gene.

Availability

Cryopreserved at Taconic.

Origin

The Atp7b_H1069Q model was originally created by Taconic Biosciences.

Source: Taconic Biosciences