Gene Summary

Name:
ectonucleotide pyrophosphatase/phosphodiesterase 5
Synonyms:
D17Abb1e

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
impaired pupillary reflex Enpp5tm1b(KOMP)Mbp HOM Early adult 2.95×10-13
decreased circulating glucose level Enpp5tm1b(KOMP)Mbp HOM Early adult 1.50×10-05

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  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote Ambiguous
Vascular system  Section images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
epididymis 13.49% (17 of 126)
esophagus 1.54% (6 of 390)
eye 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 563)
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
submandibular gland 0.83% (1 of 121)
testis 1.08% (6 of 557)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.05% (4 of 382)
dorsal root ganglion 2.08% (1 of 48)
ear 0.25% (1 of 395)
embryo 0.0%
eye 0.27% (1 of 375)
footplate 0.26% (1 of 378)
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
fronto-nasal process 0.0%
handplate 0.0%
head 1.05% (4 of 381)
heart 0.0%
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
liver 0.27% (1 of 377)
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.27% (1 of 365)
nose 1.64% (1 of 61)
oral cavity 0.26% (1 of 379)
skin 0.0%
spinal cord 1.75% (1 of 57)
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)

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 Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Enpp5 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 Enpp5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia OMIM:616113
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Optic atrophy, Impaired gluconeogenesis OMIM:261680

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 Enpp5

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 Enpp5.

No publications found that use IMPC mice or data for Enpp5.

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
Enpp5tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Enpp5tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Enpp5tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

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

Subscribe to newsletter