banner
Genes Phenotypes Help, News, Blog

Gene: Pabpc4 MGI:2385206

Log in to follow

Gene Summary

Name:
poly(A) binding protein, cytoplasmic 4
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal spine curvature Pabpc4tm1a(KOMP)Wtsi HOM Early adult 5.04×10-05
decreased circulating cholesterol level Pabpc4tm1a(KOMP)Wtsi HOM   Early adult 9.24×10-05
increased heart weight Pabpc4tm1a(KOMP)Wtsi HOM Early adult 4.67×10-07

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote Ambiguous
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood vessel 0.0%
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyer's patch 0.63% (1 of 158)
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
uterus 0.37% (2 of 535)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
Legacy Phenotype Associated Images
Pabpc4tm1e(KOMP)Wtsi
forearm, HOM, Female, WTSI
Pabpc4tm1e(KOMP)Wtsi
body, HOM, Male, WTSI
Pabpc4tm1e(KOMP)Wtsi
forearm, HOM, Male, WTSI
Pabpc4tm1e(KOMP)Wtsi
body, HOM, Male, WTSI
Pabpc4tm1e(KOMP)Wtsi
body, HOM, Male, WTSI

View all 226 images

Pabpc4tm1e(KOMP)Wtsi
eye, narrow eye opening, HOM, Female, WTSI
Pabpc4tm1e(KOMP)Wtsi
eye, cornea/lens fusion, corneal opacity, HOM, Female, WTSI
Pabpc4tm1e(KOMP)Wtsi
eye, corneal opacity, HOM, Female, WTSI
Pabpc4tm1a(KOMP)Wtsi
corneal opacity, HOM, Female, WTSI
Pabpc4tm1a(KOMP)Wtsi
left eye, HOM, Female, WTSI
Pabpc4tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Pabpc4tm1e(KOMP)Wtsi
back skin, HOM, Female, WTSI
Pabpc4tm1a(KOMP)Wtsi
tail, abnormal tail morphology, WT, Female, WTSI

Human diseases caused by Pabpc4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pabpc4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Potocki-Lupski Syndrome
Hypocholesterolemia, Atrial septal defect, Patent foramen ovale, Scoliosis OMIM:610883
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Squalene Synthase Deficiency
Bicuspid aortic valve, Increased circulating farnesol concentration, Hypocholesterolemia, Decreas... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hypocholesterolemia OMIM:607765
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Cardiomegaly OMIM:300886
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyc... OMIM:207750
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Hepatomegaly, Hyperbilirubinem... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Hepatomegaly, Steatorrhea, Hypocholesterolemia, Cardiomyopathy, Hypoalbuminemia, Perica... OMIM:212065
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Coro... ORPHA:31150
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Alg12-Cdg
Muscular ventricular septal defect, Scoliosis, Hypocholesterolemia, Biventricular hypertrophy, Pa... ORPHA:79324
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... OMIM:618838
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Hypocholesterolemia, Atrial septal defect, Ovoid vertebral bodies OMIM:244450
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... OMIM:300257
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular sept... OMIM:270400
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457

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 Pabpc4

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 Pabpc4.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pabpc4tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pabpc4tm1a(KOMP)Wtsi Pabpc4tm1e(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pabpc4tm1e(KOMP)Wtsi Pabpc4tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pabpc4tm1a(KOMP)Wtsi PMC5827107
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Pabpc4tm1e(KOMP)Wtsi PMC4631787
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Pabpc4tm1a(KOMP)Wtsi PMC3745610

Order Mouse and ES Cells

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Pabpc4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pabpc4tm361408(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pabpc4tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells
Pabpc4tm36686(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter