Gene Summary

Name:
peptidase (mitochondrial processing) alpha
Synonyms:
4933435E07Rik,  Alpha-MPP,  INPP5E

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Pmpcaem1(IMPC)J HOM   E9.5 0.00
absent vibrissae Pmpcaem1(IMPC)J HET Early adult 1.65×10-05
preweaning lethality, complete penetrance Pmpcaem1(IMPC)J HOM   Early adult 0.00
abnormal vocalization Pmpcaem1(IMPC)J HET Early adult 2.37×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Pmpca mutations

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 Pmpca by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 2
OMIM:213200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
ORPHA:1170

The table below shows human diseases predicted to be associated to Pmpca by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 2
OMIM:213200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
ORPHA:1170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pmpca

IMPC related publications

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 Pmpca.

No publications found that use IMPC mice or data for Pmpca.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pmpcatm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pmpcatm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pmpcatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pmpcaem1(IMPC)J Exon Deletion Mice
Pmpcatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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