The Atp6ap2 (ATPase H+ transporting accessory protein 2) gene encodes a 350 aa protein associated with the transmembrane sector of the vacuolar-type ATPases. It is involved in lysosomal degradation, autophagy, pH homeostasis, WNT signaling and the renin-angiotension system. Splice variant mutations in this gene have been associated with X-linked intellectual developmental disorder and epilepsy (MRXSH) and X-linked parkinsonism with spasticity (XPDS). To create the allele, CRISPR/Cas9 endonuclease-mediated genome editing of Atp6ap2 intron 2 was used to introduce a T to A mutation at the T nucleotide positioned 6 nucleotides distal to the end of exon 2 (intron 2) affecting a splice site. If additional characterization of Atp6ap2R1014C mice is performed, we may modify the strain description accordingly. Homozygous mice are viable and fertile.

The use of this mouse model is subject to the terms and conditions of the Limited Use Label License from Caribou Biosciences, Inc.

The use of this mouse strain or other product (the "Licensed Product") is subject to the terms and conditions of the Limited License from The Broad Institute.

Atp6ap2R1014C is a CRISPR/Cas9 generated mutant of the X-linked ATPase H+ transporting accessory protein 2 gene with a splice variant mutation (T to A) in intron 2. These mice may be useful in studying X-linked intellectual developmental disorder and epilepsy (MRXSH).

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.