Not currently registered for phenotyping at IMPC

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

Gene Summary

paternally expressed 3
End4,  Gcap4,  Zfp102,  Pw1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Obesity, Decreased response to growth... OMIM:614963
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
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
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Narcolepsy Type 1
Obesity ORPHA:2073
Summitt Syndrome
Obesity OMIM:272350
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
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
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Obesity, ... ORPHA:54595
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Failure to thrive, Decreased thalamic volume OMIM:613668
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... 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
Adiposis Dolorosa
Obesity OMIM:103200
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion OMIM:618929
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Small for gestational age OMIM:619057
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Short stature, Elevated circulating ... OMIM:608747
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Hypothalamic atrophy, Obesity ORPHA:2822
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
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Central Precocious Puberty In Male
Pituitary microadenoma, Hypothalamic hamartoma ORPHA:649929
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Short stature, Testicular atrophy OMIM:618165
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Dysphagia, Hypothyroidism, Testicular atrophy OMIM:222300
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, 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
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
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Abcd Syndrome
Neonatal death, Large for gestational age OMIM:600501
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Lesch-Nyhan Syndrome
Self-injurious behavior, Short stature, Dysphagia, Testicular atrophy OMIM:300322
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:444013
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed early-childhood social milestone development, Abnormal thalamus morphology, Impaired soci... ORPHA:300570
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma, Impaired social interactions OMIM:619775
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
Narcolepsy 7
Obesity OMIM:614250
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:254930
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Small for gestational age ORPHA:2959
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
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
Increased body weight ORPHA:97279
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume ORPHA:370959
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature 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
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
X-Linked Intellectual Disability, Snyder Type
Short stature, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Retinitis Pigmentosa 74
Obesity OMIM:616562
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Orofaciodigital Syndrome Type 6
Failure to thrive, Hypothalamic hamartoma ORPHA:2754
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Orofaciodigital Syndrome Vi
Failure to thrive, Hypothalamic hamartoma OMIM:277170
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Abnormal thalamic MRI signal intensity ORPHA:48818
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Pallister-Hall Syndrome
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma OMIM:146510
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Pallister-Hall Syndrome
Large for gestational age, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pitui... ORPHA:672
Hellp Syndrome
Increased body weight ORPHA:244242
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Williams Syndrome
Failure to thrive in infancy, Obesity, Abnormal social behavior, Abnormality of the diencephalon,... ORPHA:904
Orofaciodigital Syndrome I
Hypothalamic hamartoma OMIM:311200
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Norrie Disease
Abnormality of the diencephalon, Failure to thrive, Cachexia ORPHA:649
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359


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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