This B6J hAbeta mutant strain carries a CRISPR/Cas9-generated App allele with a humanized Abeta1-42 region (G601R, F606Y, R609H in the mouse gene, corresponding to amino acid positions 676, 681, 684 in the human APP locus). These mice may be suitable for use in studies related to Alzheimer's disease.
Mike Sasner, The Jackson Laboratory
This hAbeta mutant strain carries a mutant allele of the App gene containing G601R, F606Y, and R609H point mutations. The targeted App gene encodes amyloid beta precursor protein, a transmembrane cell surface receptor that is cleaved by secretases. Mutations in this gene have been associated with Alzheimer's disease.
Both heterozygous and homozygous mice are viable and fertile (March 2020). If additional characterization of these hAbeta mice is performed, we may modify the strain description accordingly.
This mutant line was generated by breeding the Apoetm1.1(APOE*4)Adiuj and Trem2em1Adiuj/J alleles out of Stock No. 030670.
Important note about App isoforms and exon numbering: The App-201 isoform (695 aa protein) is encoded by 16 exons, of which the Abeta sequence is encoded by exon 14. The App-206 isoform (770 aa protein) is encoded by 18 exons, of which the Abeta sequence is encoded by exon 16.
|Allele Name||endonuclease-mediated mutation 1, MODEL-AD Center|
|Allele Type||Endonuclease-mediated (Humanized sequence)|
|Gene Symbol and Name||App, amyloid beta (A4) precursor protein|
|Strain of Origin||B6(SJL)-Apoetm1.1(APOE*4)Adiuj Trem2em1Adiuj/J|
|Molecular Note||CRISPR/Cas9 genome editing methodologies are used to introduce G601R, F606Y, and R609H point mutations into the App gene. G601R corresponds to a GGA to CGA nucleotide change, F606Y represents a TTT to TAT change, and R609H incorporates a CGC to CAT nucleotide change.|
Both heterozygous and homozygous mice are viable and fertile.
When maintaining a live colony, heterozygous mice may be bred to wildtype mice from the colony or to C57BL/6J inbred mice (Stock No. 000664).
Alternatively, homozygous mice may be bred together.
When using the B6J hAbeta mouse strain in a publication, please cite the originating article(s) and include JAX stock #033013 in your Materials and Methods section.