The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Ap5z1 by orthology or direct annotation.
|Spastic Paraplegia 48, Autosomal Recessive
|Broad-based gait, Ataxia, Dysmetria, Tip-toe gait, Spastic gait
|Autosomal Recessive Spastic Paraplegia Type 48
|Broad-based gait, Ataxia, Spastic gait
The table below shows human diseases predicted to be associated to Ap5z1 by phenotypic similarity.
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ap5z1.
There are 1 publication which use IMPC produced mice or data.
|A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.
|Neurobiology of Disease (March 2019)
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
|Reporter-tagged deletion allele (with selection cassette)
|Mice, Targeting vectors, ES Cells