Gene Summary

Name:
phosphofurin acidic cluster sorting protein 1
Synonyms:
N/A

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
increased circulating lipase level Pacs1em1(IMPC)Hmgu HET Early adult 4.67×10-05
preweaning lethality, complete penetrance Pacs1em1(IMPC)Hmgu HOM   Early adult 7.57×10-09
abnormal seminal vesicle morphology Pacs1em1(IMPC)Hmgu HET Early adult 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pacs1 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 Pacs1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schuurs-Hoeijmakers Syndrome
Cryptorchidism OMIM:615009
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism ORPHA:329224

The table below shows human diseases predicted to be associated to Pacs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Schuurs-Hoeijmakers Syndrome
Cryptorchidism OMIM:615009
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism ORPHA:329224

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 Pacs1

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 Pacs1.

No publications found that use IMPC mice or data for Pacs1.

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MGI Allele Allele Type Produced
Pacs1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pacs1tm184482(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pacs1em1(IMPC)Hmgu Intra-exon deletion Mice

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