Gene: Ppp1r3a MGI:2153588

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Gene Summary

Name:
protein phosphatase 1, regulatory subunit 3A
Synonyms:
GM,  RGL

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.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Ppp1r3a 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.

The table below shows human diseases associated to Ppp1r3a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 2 Diabetes Mellitus
OMIM:125853

The table below shows human diseases predicted to be associated to Ppp1r3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
OMIM:125460
Maturity-Onset Diabetes Of The Young, Type 11
OMIM:613375
Type 1 Diabetes Mellitus 2
OMIM:125852
Type 1 Diabetes Mellitus 15
OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
OMIM:616511
Type 2 Diabetes Mellitus
OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
ORPHA:140941
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
ORPHA:293964
Lipodystrophy, Familial Partial, Type 6
OMIM:615980
Cortisone Reductase Deficiency 2
OMIM:614662
Multiple Symmetric Lipomatosis
ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
ORPHA:71529
Insulin Autoimmune Syndrome
ORPHA:411593
Hyperostosis Frontalis Interna
OMIM:144800
Spermatogenic Failure, X-Linked, 1
OMIM:305700
Bardet-Biedl Syndrome 6
OMIM:605231
Bardet-Biedl Syndrome 14
OMIM:615991
Obesity
OMIM:601665
Growth Hormone Insensitivity Syndrome
ORPHA:181393
Triglyceride Storage Disease, Type Ii
OMIM:190430
Hyperinsulinemic Hypoglycemia, Familial, 1
OMIM:256450
Mental Retardation, Autosomal Dominant 39
OMIM:616521
Hyperinsulinemic Hypoglycemia, Familial, 2
OMIM:601820
Morbid Obesity And Spermatogenic Failure
OMIM:615703
Prader-Willi syndrome (Type 1)
DECIPHER:14
Prader-Willi Syndrome (Type 2)
DECIPHER:53
Hyperinsulinism Due To Insr Deficiency
ORPHA:263458
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
OMIM:610156
Bardet-Biedl Syndrome 7
OMIM:615984
Body Mass Index Quantitative Trait Locus 19
OMIM:617885
Bardet-Biedl Syndrome 11
OMIM:615988
Prader-Willi Habitus, Osteopenia, And Camptodactyly
OMIM:264010
Lipodystrophy, Familial Partial, Type 7
OMIM:606721
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
ORPHA:1078
Bardet-Biedl Syndrome 22
OMIM:617119
Bardet-Biedl Syndrome 12
OMIM:615989
Diabetes Mellitus, Ketosis-Prone
OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
OMIM:200170
Obesity Due To Prohormone Convertase I Deficiency
ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
OMIM:618406
Bardet-Biedl Syndrome 13
OMIM:615990
Narcolepsy Type 1
ORPHA:2073
Familial Partial Lipodystrophy, Köbberling Type
ORPHA:79084
Bardet-Biedl Syndrome 18
OMIM:615995
Abdominal Obesity-Metabolic Syndrome 1
OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
OMIM:605572
Intellectual Developmental Disorder, X-Linked 97
OMIM:300803
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
ORPHA:436141
Isolated Growth Hormone Deficiency, Type V
OMIM:618160
Acquired Partial Lipodystrophy
ORPHA:79087
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
ORPHA:329249
Macrosomia With Microphthalmia, Lethal
OMIM:248110
Lipodystrophy, Congenital Generalized, Type 3
OMIM:612526
Adiposis Dolorosa
OMIM:103200
Bardet-Biedl Syndrome 10
OMIM:615987
Acromegaloid Facial Appearance Syndrome
OMIM:102150
Summitt Syndrome
OMIM:272350
Obesity Due To Sim1 Deficiency
ORPHA:369873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
ORPHA:356996
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
OMIM:619058
Bardet-Biedl Syndrome 5
OMIM:615983
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
ORPHA:3055
Halothane Hepatitis
OMIM:234350
Syndromic X-Linked Intellectual Disability 7
ORPHA:85274
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
OMIM:615418
Mental Retardation, X-Linked 91
OMIM:300577
Carcinoma Of Esophagus
ORPHA:70482
Adenocarcinoma Of The Esophagus
ORPHA:99976
Rafiq Syndrome
OMIM:614202
Lipe-Related Familial Partial Lipodystrophy
ORPHA:435660
Retinitis Pigmentosa 71
OMIM:616394
Immunodeficiency 61
OMIM:300310
Bardet-Biedl Syndrome 2
OMIM:615981
Macrosomia Adiposa Congenita
OMIM:248100
Congenital Generalized Lipodystrophy
ORPHA:528
Narcolepsy 7
OMIM:614250
Hernández-Aguirre Negrete Syndrome
ORPHA:2139
Mehmo Syndrome
ORPHA:85282
Retinitis Pigmentosa
ORPHA:791
Cubitus Valgus With Mental Retardation And Unusual Facies
OMIM:300471
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
OMIM:610628
Nephronophthisis 15
OMIM:614845
Hyperinsulinism Due To Hnf1A Deficiency
ORPHA:324575
Ankylosing Vertebral Hyperostosis With Tylosis
ORPHA:2206
Mody
ORPHA:552
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
ORPHA:3085
11P15.4 Microduplication Syndrome
ORPHA:300305
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
ORPHA:276608
Temple Syndrome
OMIM:616222
Severe Neurodegenerative Syndrome With Lipodystrophy
ORPHA:363400
Microduplication Xp11.22P11.23 Syndrome
ORPHA:217377
Mandibuloacral Dysplasia
ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
OMIM:615381
Akt2-Related Familial Partial Lipodystrophy
ORPHA:79085
Mehmo Syndrome
OMIM:300148
Pparg-Related Familial Partial Lipodystrophy
ORPHA:79083
Bardet-Biedl Syndrome 16
OMIM:615993
Bardet-Biedl Syndrome 19
OMIM:615996
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
OMIM:609734
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
OMIM:618124
Lipodystrophy, Familial Partial, Type 1
OMIM:608600
Familial Multiple Lipomatosis
ORPHA:199276
Familial Partial Lipodystrophy, Dunnigan Type
ORPHA:2348
Leptin Receptor Deficiency
OMIM:614963
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
ORPHA:73272
Fryns Macrocephaly
OMIM:600302
Ataxia-Oculomotor Apraxia Type 4
ORPHA:459033
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
OMIM:618363
Temple Syndrome
ORPHA:254516
Combined Oxidative Phosphorylation Deficiency 15
OMIM:614947
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
ORPHA:276580
Central Precocious Puberty
ORPHA:759
Xq27.3Q28 Duplication Syndrome
ORPHA:261483
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
ORPHA:2234
Obesity, Hyperphagia, And Developmental Delay
OMIM:613886
Laurence-Moon Syndrome
ORPHA:2377
Mental Retardation With Language Impairment And With Or Without Autistic Features
OMIM:613670
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
ORPHA:98855
Bardet-Biedl Syndrome 21
OMIM:617406
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
ORPHA:276630
Insulin-Resistance Syndrome Type B
ORPHA:2298
Insulinomatosis And Diabetes Mellitus
OMIM:147630
Hepatic Veno-Occlusive Disease
ORPHA:890
Cortisone Reductase Deficiency 1
OMIM:604931
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
OMIM:616756
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
ORPHA:254531
Trisomy 5P
ORPHA:1742
Short Syndrome
ORPHA:3163
Subaortic Stenosis-Short Stature Syndrome
ORPHA:3191
Macrosomia-Microphthalmia-Cleft Palate Syndrome
ORPHA:2432
Myofibrillar Myopathy 11
OMIM:619178
Lipodystrophy, Congenital Generalized, Type 4
OMIM:613327
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
ORPHA:189427
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
ORPHA:88643
X-Linked Emery-Dreifuss Muscular Dystrophy
ORPHA:98863
Summitt Syndrome
ORPHA:3210
Short Stature-Obesity Syndrome
OMIM:269870
Proprotein Convertase 1/3 Deficiency
OMIM:600955
Emery-Dreifuss Muscular Dystrophy
ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ORPHA:98853
Chromosome Xq21 Deletion Syndrome
OMIM:303110
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
OMIM:615630
Biemond Syndrome Type 2
ORPHA:141333
Retinal Dystrophy And Obesity
OMIM:616188
Bardet-Biedl Syndrome 4
OMIM:615982
Placental Insufficiency
ORPHA:439167
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
OMIM:618725
Hypothyroidism, Congenital, Nongoitrous, 6
OMIM:614450
Bardet-Biedl Syndrome 9
OMIM:615986
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
ORPHA:2928
Intellectual Developmental Disorder, X-Linked, Syndromic 11
OMIM:300238
Primary Lipodystrophy
ORPHA:90970
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
ORPHA:276575
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
ORPHA:280365
Prolactin Deficiency With Obesity And Enlarged Testes
OMIM:264120
Hyperinsulinism Due To Hnf4A Deficiency
ORPHA:263455
Growth Factors, Combined Defect Of
OMIM:233805
Polycystic Ovary Syndrome 1
OMIM:184700
Borjeson-Forssman-Lehmann Syndrome
OMIM:301900
Leptin Deficiency Or Dysfunction
OMIM:614962
Autism, Susceptibility To, 18
OMIM:615032
Clark-Baraitser Syndrome
OMIM:617752
Beta-Mercaptolactate Cysteine Disulfiduria
ORPHA:1035
Spastic Paraplegia 11, Autosomal Recessive
OMIM:604360
Acrodysostosis 2 With Or Without Hormone Resistance
OMIM:614613
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
ORPHA:480907
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
ORPHA:96184
Hyperinsulinism Due To Ucp2 Deficiency
ORPHA:276556
Bardet-Biedl Syndrome 8
OMIM:615985
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
ORPHA:521390
Silver-Russell Syndrome
ORPHA:813
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
OMIM:618822
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
OMIM:606772
Acth-Independent Macronodular Adrenal Hyperplasia 2
OMIM:615954
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
ORPHA:85280
Pigmented Nodular Adrenocortical Disease, Primary, 4
OMIM:615830
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
OMIM:618443
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
ORPHA:90301
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
ORPHA:2233
Prader-Willi Syndrome Due To Imprinting Mutation
ORPHA:177910
48,Xxyy Syndrome
ORPHA:10
Simpson-Golabi-Behmel Syndrome, Type 2
OMIM:300209
Obesity-Hypoventilation Syndrome
OMIM:257500
Wilson-Turner Syndrome
ORPHA:3459
Pseudopseudohypoparathyroidism
OMIM:612463
Abdominal Obesity-Metabolic Syndrome 4
OMIM:618620
Retinopathy, Pigmentary, And Mental Retardation
OMIM:268050
Acquired Generalized Lipodystrophy
ORPHA:79086
Coenzyme Q10 Deficiency, Primary, 2
OMIM:614651
Multiple Epiphyseal Dysplasia, Al-Gazali Type
ORPHA:166024
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
ORPHA:2429
Baralle-Macken Syndrome
OMIM:619255
Pseudopseudohypoparathyroidism
ORPHA:79445
Obesity Due To Congenital Leptin Deficiency
ORPHA:66628
Aromatase Deficiency
ORPHA:91
Hydrocephalus-Obesity-Hypogonadism Syndrome
ORPHA:2183
Chung-Jansen Syndrome
OMIM:617991
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
OMIM:262190
Idiopathic Neonatal Atrial Flutter
ORPHA:45452
Atkin-Flaitz Syndrome
ORPHA:1193
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
ORPHA:352530
Obesity Due To Leptin Receptor Gene Deficiency
ORPHA:179494
Laron Syndrome
ORPHA:633
Shox-Related Short Stature
ORPHA:314795
Short Stature, Microcephaly, And Endocrine Dysfunction
OMIM:616541
Lipodystrophy, Familial Partial, Type 3
OMIM:604367
Wagr Syndrome
ORPHA:893
Werner Syndrome
ORPHA:902
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
ORPHA:254525
Monosomy 13Q34
ORPHA:96168
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
ORPHA:397973
Schaaf-Yang Syndrome
OMIM:615547
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
OMIM:619326
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
OMIM:615633
13Q12.3 Microdeletion Syndrome
ORPHA:412035
X-Linked Intellectual Disability, Shashi Type
ORPHA:85286
Insulin-Like Growth Factor I, Resistance To
OMIM:270450
X-Linked Intellectual Disability, Stevenson Type
ORPHA:85325
Insulinoma
ORPHA:97279
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
ORPHA:411515
Mental Retardation, Autosomal Recessive 13
OMIM:613192
Clark-Baraitser syndrome
OMIM:300602
6Q16 Microdeletion Syndrome
ORPHA:171829
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
ORPHA:486815
Bardet-Biedl Syndrome 17
OMIM:615994
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
OMIM:608624
Pituitary Adenoma 4, Acth-Secreting
OMIM:219090
Abcd Syndrome
OMIM:600501
X-Linked Intellectual Disability, Hedera Type
ORPHA:93952
Seckel Syndrome 10
OMIM:617253
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
ORPHA:171839
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
OMIM:617296
Pseudohypoparathyroidism, Type Ib
OMIM:603233
Bardet-Biedl Syndrome 3
OMIM:600151
Atkin-Flaitz Syndrome
OMIM:300431
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
OMIM:616026
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
OMIM:601794
Microtriplication 11Q24.1
ORPHA:289522
Wilson Disease
ORPHA:905
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
ORPHA:363741
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
ORPHA:254534
Chromosome 3Q29 Duplication Syndrome
OMIM:611936
Pancreatic Agenesis 1
OMIM:260370
Megalencephaly
ORPHA:2477
Idiopathic Intracranial Hypertension
ORPHA:238624
Urban-Rogers-Meyer Syndrome
ORPHA:3409
Rabson-Mendenhall Syndrome
ORPHA:769
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
ORPHA:2180
Cushing Disease
ORPHA:96253
Chromosome Xq27.3-Q28 Duplication Syndrome
OMIM:300869
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
ORPHA:464282
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
ORPHA:3077
Xp22.13P22.2 Duplication Syndrome
ORPHA:284180
11Q22.2Q22.3 Microdeletion Syndrome
ORPHA:444002
Macrocephaly/Autism Syndrome
OMIM:605309
Growth Retardation, Developmental Delay, And Facial Dysmorphism
OMIM:612938
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
ORPHA:3041
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
ORPHA:26793
Carpenter Syndrome
ORPHA:65759
Bangstad Syndrome
OMIM:210740
Mandibuloacral Dysplasia With Type B Lipodystrophy
ORPHA:90154
15Q24 Microdeletion Syndrome
ORPHA:94065
Rhizomelic Limb Shortening With Dysmorphic Features
OMIM:618821
Whipple Disease
ORPHA:3452
48,Xxxy Syndrome
ORPHA:96263
Cidec-Related Familial Partial Lipodystrophy
ORPHA:435651
X-Linked Non-Syndromic Intellectual Disability
ORPHA:777
Hypothyroidism, Central, With Testicular Enlargement
OMIM:300888
Senior-Loken Syndrome 9
OMIM:616629
Lipodystrophy, Familial Partial, Type 2
OMIM:151660
Bloom Syndrome
ORPHA:125
Marbach-Rustad Progeroid Syndrome
OMIM:619322
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
OMIM:600122
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
OMIM:300354
Congenital Analbuminemia
ORPHA:86816
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
OMIM:617157
Down Syndrome
ORPHA:870
Chromosome 2Q37 Deletion Syndrome
OMIM:600430
Intellectual Developmental Disorder, X-Linked 12
OMIM:300957
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
ORPHA:464288
Mandibuloacral Dysplasia With Type B Lipodystrophy
OMIM:608612
Chromosome 16P13.3 Deletion Syndrome, Proximal
OMIM:610543
Joubert Syndrome 32
OMIM:617757
Leprechaunism
ORPHA:508
Kennerknecht Syndrome
OMIM:600908
Smith-Kingsmore Syndrome
OMIM:616638
Cornelia De Lange Syndrome 5
OMIM:300882
Distal 16P11.2 Microdeletion Syndrome
ORPHA:261222
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
ORPHA:264580
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
OMIM:300860
Alstrom Syndrome
OMIM:203800
Joubert Syndrome 8
OMIM:612291
Borjeson-Forssman-Lehmann Syndrome
ORPHA:127
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
ORPHA:226313
Mandibuloacral Dysplasia With Type A Lipodystrophy
OMIM:248370
Pseudohypoparathyroidism, Type Ic
OMIM:612462
Septo-Optic Dysplasia Spectrum
ORPHA:3157
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
ORPHA:96182
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
OMIM:618430
Dysbetalipoproteinemia
ORPHA:412
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
OMIM:301039
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
OMIM:194072
Momo Syndrome
ORPHA:2563
9Q31.1Q31.3 Microdeletion Syndrome
ORPHA:401923
Abdominal Obesity-Metabolic Syndrome 3
OMIM:615812
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
ORPHA:34527
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
OMIM:619269
Sim1-Related Prader-Willi-Like Syndrome
ORPHA:398079
Pseudohypoparathyroidism, Type Ia
OMIM:103580
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
ORPHA:137634
Perrault Syndrome 4
OMIM:615300
Gitelman Syndrome
ORPHA:358
Dopamine Beta-Hydroxylase Deficiency
ORPHA:230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
OMIM:618395
Tatton-Brown-Rahman Syndrome
ORPHA:404443
Bardet-Biedl Syndrome
ORPHA:110
Proximal 16P11.2 Microdeletion Syndrome
ORPHA:261197
Luscan-Lumish Syndrome
OMIM:616831
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
OMIM:619056
Kleefstra Syndrome Due To 9Q34 Microdeletion
ORPHA:96147
Autosomal Dominant Centronuclear Myopathy
ORPHA:169189
Peripartum Cardiomyopathy
ORPHA:563
Bardet-Biedl Syndrome 1
OMIM:209900
Pde4D Haploinsufficiency Syndrome
ORPHA:439822
2Q37 Microdeletion Syndrome
ORPHA:1001
8P23.1 Microdeletion Syndrome
ORPHA:251071
X-Linked Intellectual Disability, Cabezas Type
ORPHA:85293
Mandibuloacral Dysplasia With Type A Lipodystrophy
ORPHA:90153
19P13.12 Microdeletion Syndrome
ORPHA:254346
Man1B1-Cdg
ORPHA:397941
Adiposis Dolorosa
ORPHA:36397
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
ORPHA:209902
Thalidomide Embryopathy
ORPHA:3312
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
OMIM:618493
Metaphyseal Chondrodysplasia, Schmid Type
ORPHA:174
Müllerian Aplasia And Hyperandrogenism
ORPHA:247768
Helsmoortel-Van Der Aa Syndrome
OMIM:615873
Momo Syndrome
OMIM:157980
Autosomal Recessive Spastic Paraplegia Type 11
ORPHA:2822
Angelman Syndrome
OMIM:105830
Prader-Willi Syndrome
OMIM:176270
Desbuquois Dysplasia 1
OMIM:251450
Ring Chromosome Y Syndrome
ORPHA:261529
Radio-Tartaglia Syndrome
OMIM:619312
Angelman Syndrome Due To A Point Mutation
ORPHA:411511
Carpenter Syndrome 1
OMIM:201000
3Q29 Microduplication Syndrome
ORPHA:251038
Acth-Independent Macronodular Adrenal Hyperplasia
OMIM:219080
Thyrotoxic Periodic Paralysis
ORPHA:79102
Paternal Uniparental Disomy Of Chromosome 1
ORPHA:251004
Chops Syndrome
OMIM:616368
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
ORPHA:3224
Kleefstra Syndrome 1
OMIM:610253
Magel2-Related Prader-Willi-Like Syndrome
ORPHA:398069
Smith-Magenis Syndrome
OMIM:182290
Smith-Magenis Syndrome
ORPHA:819
Cohen Syndrome
OMIM:216550
White-Sutton Syndrome
ORPHA:468678
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
ORPHA:2235
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
ORPHA:98793
Adrenocortical Carcinoma
ORPHA:1501
Kohlschutter-Tonz Syndrome-Like
OMIM:619229
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
ORPHA:177901
Ulnar-Mammary Syndrome
ORPHA:3138
Kleefstra Syndrome
ORPHA:261494
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
OMIM:141750
Pruritic Urticarial Papules And Plaques Of Pregnancy
ORPHA:64745
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
ORPHA:98794
Distal Monosomy 12Q
ORPHA:96149
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
OMIM:210720
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
OMIM:614520
Steinert Myotonic Dystrophy
ORPHA:273
Pigmented Nodular Adrenocortical Disease, Primary, 2
OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
OMIM:610489
Craniopharyngioma
ORPHA:54595
Achondroplasia
ORPHA:15
Prader-Willi-Like Syndrome
ORPHA:398073
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
ORPHA:457059
Sheehan Syndrome
ORPHA:91355
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
OMIM:309585
Microcephalic Primordial Dwarfism, Dauber Type
ORPHA:319675
Beckwith-Wiedemann Syndrome
ORPHA:116
Xylt1-Cdg
ORPHA:370930
7Q11.23 Microduplication Syndrome
ORPHA:96121
Resistance To Thyrotropin-Releasing Hormone Syndrome
ORPHA:99832
Cohen Syndrome
ORPHA:193
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
ORPHA:369837
Angelman Syndrome
ORPHA:72
Kallmann Syndrome
ORPHA:478
Pseudohypoparathyroidism Type 1C
ORPHA:79444
Prader-Willi Syndrome
ORPHA:739
Hutchinson-Gilford Progeria Syndrome
ORPHA:740
Acrodysostosis With Multiple Hormone Resistance
ORPHA:280651
Cushing Syndrome Due To Ectopic Acth Secretion
ORPHA:99889
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
ORPHA:369950
Xq21 Microdeletion Syndrome
ORPHA:1435
Hellp Syndrome
ORPHA:244242
Desbuquois Dysplasia 2
OMIM:615777
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
OMIM:250420
Kabuki Syndrome
ORPHA:2322
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
ORPHA:2637
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
ORPHA:293987
Myhre Syndrome
OMIM:139210
Pseudohypoparathyroidism Type 1A
ORPHA:79443
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
ORPHA:466950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
OMIM:618653
Turner Syndrome Due To Structural X Chromosome Anomalies
ORPHA:99413
Turner Syndrome
ORPHA:881
Mosaic Monosomy X
ORPHA:99228
Monosomy X
ORPHA:99226
1P21.3 Microdeletion Syndrome
ORPHA:293948
Perlman Syndrome
OMIM:267000
Prader-Willi Syndrome Due To Translocation
ORPHA:177907
Primrose Syndrome
OMIM:259050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
ORPHA:444077
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
ORPHA:466943
Lysinuric Protein Intolerance
OMIM:222700
Witteveen-Kolk Syndrome
OMIM:613406
Meningioma
ORPHA:2495
Adnp Syndrome
ORPHA:404448
6Q Terminal Deletion Syndrome
ORPHA:75857
Alström Syndrome
ORPHA:64
22Q11.2 Deletion Syndrome
ORPHA:567
Williams-Beuren Syndrome
OMIM:194050
Tako-Tsubo Cardiomyopathy
ORPHA:66529
17Q24.2 Microdeletion Syndrome
ORPHA:529962
Partial Deletion Of The Short Arm Of Chromosome 7
ORPHA:261911
Pmm2-Cdg
ORPHA:79318
Digeorge Syndrome
OMIM:188400
45,X/46,Xy Mixed Gonadal Dysgenesis
ORPHA:1772
Ulnar-Mammary Syndrome
OMIM:181450
Monosomy 22Q13.3
ORPHA:48652
1P36 Deletion Syndrome
ORPHA:1606
Carpenter Syndrome 2
OMIM:614976
Chronic Thromboembolic Pulmonary Hypertension
ORPHA:70591
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
OMIM:619321
Williams Syndrome
ORPHA:904
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
ORPHA:353281
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
OMIM:309580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
ORPHA:353277
Rubinstein-Taybi Syndrome 1
OMIM:180849
Chromosome 1P36 Deletion Syndrome
OMIM:607872
Cornelia De Lange Syndrome
ORPHA:199
Pallister-Killian Syndrome
OMIM:601803

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 Ppp1r3a

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 Ppp1r3a.

No publications found that use IMPC mice or data for Ppp1r3a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ppp1r3atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp1r3aem1(IMPC)Bay Exon Deletion Mice, Tissue

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