Gene Summary

Name:
prostate and testis expressed 4
Synonyms:
Svs7,  9530004K16Rik,  SVS VII,  Pate-B

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 fasting circulating glucose level Pate4tm1.1(KOMP)Mbp HOM Early adult 8.45×10-08
increased heart weight Pate4tm1.1(KOMP)Mbp HOM Early adult 4.39×10-05
hyperactivity Pate4tm1.1(KOMP)Mbp HOM Early adult 4.71×10-08

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
Epididymis  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system 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
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

8 Images

Adult LacZ

LacZ Images Section

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

10 Images

Electroretinography 2

Rod and cone PDF

3 Images

Human diseases caused by Pate4 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 Pate4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Ethanolaminosis
Cardiomegaly OMIM:227150
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Hyperactivity, Atrial septal defect DECIPHER:39
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia OMIM:615924
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Abnormal heart morphology, Maturity-onset diabetes of the young... ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Type II diabetes mellitus, Cardiomyopathy, Hyperglycemia OMIM:520000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Lethargy OMIM:600649
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... OMIM:212140
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Morm Syndrome
Hyperactivity ORPHA:75858
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Lethargy ORPHA:2089
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperactivity, Ataxia, Gait ataxia, Hyperinsulinemia, Limb dyst... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Ventricular septal defect OMIM:618504
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Lethargy OMIM:255120
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Attention deficit hyperactivity disorder, Abnormal cardiac septum mo... OMIM:614294
Priapism, Familial Idiopathic
Priapism OMIM:176620
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Coffin-Siris Syndrome 7
Hyperactivity, Abnormal heart morphology, Abnormal cardiac septum morphology OMIM:618027
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252920
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly OMIM:618838
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Gand Syndrome
Hyperactivity OMIM:615074
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Atrial septal defect, Pulmonic stenosis OMIM:619239
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Fragile X Syndrome
Hyperactivity, Mitral valve prolapse OMIM:300624
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Dysplastic pulmonary valve, Broad-based gait OMIM:300958
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Hypoglycemia, Insulin resistance ORPHA:73272
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Myopathy With Extrapyramidal Signs
Dystonia, Hepatomegaly, Ventricular septal defect, Splenomegaly, Hyperactivity, Ataxia, Difficult... OMIM:615673
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus OMIM:614613
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy, Neonatal hypoglycemia OMIM:261740
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Histidinemia
Hyperactivity ORPHA:2157
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Subvalvular aortic stenosis OMIM:600430
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Hyperactivity, Atrial septal defe... ORPHA:485405
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252930
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Mitral valve prolapse, Diabetes mellitus ORPHA:449291
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Neonatal hypoglycemia ORPHA:457485
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252940
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Brain-Lung-Thyroid Syndrome
Dystonia, Ventricular septal defect, Falls, Hyperactivity, Ataxia, Atrial septal defect, Abnormal... ORPHA:209905
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Hyperactivit... ORPHA:2209
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Truncus arteriosus OMIM:617516
Legius Syndrome
Dystonia, Mitral valve prolapse, Pulmonic stenosis, Hyperactivity, Attention deficit hyperactivit... ORPHA:137605
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Truncus arteriosus, Hyperglycemia, Hypoplastic tricuspid valve, Double... OMIM:600001
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Argininemia
Hyperactivity, Hepatomegaly, Spastic gait OMIM:207800
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Hyperactivity, Atrial ... OMIM:607721
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart morphology, Abnormal tricuspid val... ORPHA:580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Hyperactivity, Atrial septal defect OMIM:600268
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Choreoacanthocytosis
Dilated cardiomyopathy, Hepatomegaly, Lingual dystonia, Loss of ambulation, Oromandibular dystoni... ORPHA:2388

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 Pate4

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 Pate4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Seminal vesicle secretory protein 7, PATE4, is not required for sperm function but for copulatory plug formation to ensure fecundity. Biology of reproduction (November 2018) Pate4 tm1a(KOMP)Osb PMC6483057
No obvious phenotypic abnormalities in mice lacking the Pate4 gene. Biochemical and biophysical research communications (December 2015) Pate4tm1(KOMP)Mbp 26731031

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MGI Allele Allele Type Produced
Pate4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pate4tm458750(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pate4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Pate4tm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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