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Gene: Peg3 MGI:104748

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
paternally expressed 3
Synonyms:
End4,  Gcap4,  Zfp102,  Pw1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Peg3 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 Peg3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... OMIM:614963
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:254516
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Obesity, Abnormal hypothalamus mo... ORPHA:54595
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Failure to thrive OMIM:613668
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight ORPHA:314621
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Adiposis Dolorosa
Obesity OMIM:103200
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion OMIM:618929
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Alexander Disease Type I
Cachexia, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Small for gestational age OMIM:619057
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Obesity, Overweight ORPHA:2822
Immunodeficiency 61
Obesity OMIM:300310
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Nephronophthisis 15
Obesity OMIM:614845
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71526
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia OMIM:160900
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Bone Marrow Failure Syndrome 5
Testicular atrophy, Growth delay, Short stature, Hypogonadism OMIM:618165
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Wolfram Syndrome 1
Growth delay, Hypothyroidism, Dysphagia, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Abcd Syndrome
Large for gestational age, Neonatal death OMIM:600501
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior, Short stature, Dysphagia OMIM:300322
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:444013
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Delayed early-childhood social milestone development, Reduced socia... ORPHA:300570
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma, Reduced social reciprocity OMIM:619775
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame... OMIM:157640
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:254930
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Narcolepsy 7
Obesity OMIM:614250
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Small for gestational age ORPHA:2959
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Cach Syndrome
T2 hypointense thalamus ORPHA:135
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Insulinoma
Increased body weight ORPHA:97279
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume ORPHA:370959
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology ORPHA:79139
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Leigh Syndrome
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:506
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... ORPHA:2495
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Failure to thrive ORPHA:2754
Retinitis Pigmentosa 74
Obesity OMIM:616562
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Oral-pharyngeal dysphagia, Decreased response to gr... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature ORPHA:3063
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Failure to thrive OMIM:277170
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Hydranencephaly
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema ORPHA:2177
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189427
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothalamic hamartoma OMIM:146510
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Pallister-Hall Syndrome
Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Large for gestational a... ORPHA:672
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Anterior pituitary hypoplasia OMIM:206900
Hellp Syndrome
Increased body weight ORPHA:244242
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Williams Syndrome
Failure to thrive in infancy, Obesity, Overfriendliness, Abnormality of the diencephalon, Abnorma... ORPHA:904
Orofaciodigital Syndrome I
Hypothalamic hamartoma OMIM:311200
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami OMIM:610828
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Norrie Disease
Cachexia, Failure to thrive, Abnormality of the diencephalon ORPHA:649
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359

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 Peg3

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 Peg3.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PEG3 controls lipogenesis through ACLY. PloS one (May 2021) Peg3tm1a(EUCOMM)Hmgu PMC8162686
Circular RNA identified from Peg3 and Igf2r. PloS one (September 2018) Peg3tm1a(EUCOMM)Hmgu Peg3tm1d(EUCOMM)Hmgu PMC6138396
Oxytocin receptor is regulated by Peg3. PloS one (August 2018) Peg3tm1a(EUCOMM)Hmgu PMC6091971
Inversion of the imprinting control region of the Peg3 domain. PloS one (July 2017) Peg3tm1c(EUCOMM)Hmgu PMC5515438
PEG3 control on the mammalian MSL complex. PloS one (June 2017) Peg3tm1a(EUCOMM)Hmgu PMC5469463
Parental and sexual conflicts over the Peg3 imprinted domain. Scientific reports (November 2016) Peg3tm1c(EUCOMM)Hmgu PMC5128876
Alternative promoters of Peg3 with maternal specificity. Scientific reports (April 2016) Peg3tm1c(EUCOMM)Hmgu Peg3tm1a(EUCOMM)Hmgu Peg3tm1d(EUCOMM)Hmgu PMC4830991
Tissue-Specific Contributions of Paternally Expressed Gene 3 in Lactation and Maternal Care of Mus musculus. PloS one (December 2015) Peg3tm1c(EUCOMM)Hmgu Peg3tm1a(EUCOMM)Hmgu Peg3tm1d(EUCOMM)Hmgu PMC4671625
Yy1 gene dosage effect and bi-allelic expression of Peg3. PloS one (March 2015) Peg3tm1c(EUCOMM)Hmgu Peg3tm1a(EUCOMM)Hmgu Peg3tm1d(EUCOMM)Hmgu PMC4361396
Peg3 mutational effects on reproduction and placenta-specific gene families. PloS one (December 2013) Peg3tm1a(EUCOMM)Hmgu PMC3877027

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MGI Allele Allele Type Produced
Peg3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Peg3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Peg3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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