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Gene: Ppp1r12b MGI:1916417

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Gene Summary

Name:
protein phosphatase 1, regulatory subunit 12B
Synonyms:
9530009M10Rik,  1810037O03Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart weight Ppp1r12bem1(IMPC)J HOM Early adult 5.05×10-08
absent vibrissae Ppp1r12bem1(IMPC)J HOM Early adult 7.78×10-11
abnormal coat/ hair morphology Ppp1r12bem1(IMPC)J HOM Early adult 3.10×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Electroretinography 3

Fundus file

6 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

13 Images

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Human diseases caused by Ppp1r12b 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 Ppp1r12b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypertension, Myocardial infarction OMIM:608320
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Obesity, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Morbid Obesity And Spermatogenic Failure
Obesity, Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Obesity And Hypopigmentation
Red hair, Overgrowth, Obesity OMIM:620195
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Obesity, Abnormal hair quantity, Mitral valve prolapse ORPHA:2233
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Mitral valve prolapse, Low posterior hairline, Sparse facial hair, Absent facial hair ORPHA:2183
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hypertension, Childhood-onset truncal obesity ORPHA:71529
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Overweight OMIM:614651
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Noonan Syndrome 8
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ... OMIM:615355
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Dilated cardiomyopathy, Bicuspid aortic valve, Thick... ORPHA:401923
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Tall stature, Large for gestational age OMIM:617757
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Tall stature, Large for gestational age, Abnormal pulmonary valve morphology, Overgrowth, Pulmoni... ORPHA:137634
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Tachycardia ORPHA:276556
Obesity Due To Sim1 Deficiency
Hypotension, Obesity, Postural hypotension with compensatory tachycardia ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Tachycardia ORPHA:276575
Bardet-Biedl Syndrome 8
Obesity, Situs inversus totalis OMIM:615985
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Noonan Syndrome 5
Sparse eyebrow, Fine hair, Hypertrophic cardiomyopathy, Large for gestational age, Arrhythmia, At... OMIM:611553
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Heart murmur, Obesity, Left ventricular hypertrophy OMIM:615418
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Arrhythmia, Obesity, Subvalvular aortic stenosis ORPHA:3191
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia ORPHA:276608
Cantu Syndrome
Congenital hypertrophy of left ventricle, Large for gestational age, Long eyelashes, Curly eyelas... OMIM:239850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Obesity, Patent foramen ovale, Ventricular septal... ORPHA:26793
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Alopecia, Hypertension, Hirsutism OMIM:615830
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Large for gestational age, Ventricular septal defect, Overgrowth, Smal... ORPHA:254534
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Synophrys ORPHA:589905
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Nail dystrophy, Hirsutism, Increased body weight, Low posterior hairline, Sy... OMIM:300860
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Truncal obesity, Abdominal obesity, Hypertension, Myocardial infarction OMIM:615812
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hypertension, Abdominal obesity OMIM:615954
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity... ORPHA:70591
Smith-Magenis Syndrome
Increased body weight, Abnormal heart morphology, Synophrys OMIM:182290
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Hypertension, Myocardial infarction OMIM:618620
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Abcd Syndrome
Albinism, Large for gestational age, White eyebrow, White eyelashes OMIM:600501
Adrenocortical Carcinoma
Hypertrichosis, Palpitations, Increased body weight, Weight loss, Hypertension ORPHA:1501
Sotos Syndrome
Sparse eyebrow, High anterior hairline, Muscular ventricular septal defect, Tall stature, Ventric... OMIM:117550
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Tachycardia, Large for gestational age ORPHA:263455
Insulinoma
Increased body weight, Palpitations ORPHA:97279
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism, Increased body weight, Abdominal obesity, Hypertension ORPHA:189427
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive, Cardiomyopathy ORPHA:264580
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Atrial septal defect, Abdominal obesity, Hypopigmentati... ORPHA:398069
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Joubert Syndrome 39
Hypoplastic left heart, Overweight OMIM:619562
Hellp Syndrome
Increased body weight, Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Cushing Disease
Capillary fragility, Hirsutism, Increased body weight, Truncal obesity, Abdominal obesity, Hypert... ORPHA:96253
Insulin-Resistance Syndrome Type B
Alopecia, Abnormality of body weight, Decreased body weight, Increased body weight, Hirsutism, We... ORPHA:2298
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Carney Complex
Congestive heart failure, Tall stature, Hirsutism, Increased body weight, Ductal carcinoma in sit... ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Hirsutism, Increased body weight, Weight loss, Truncal obesity, Abdominal ob... ORPHA:99889

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 Ppp1r12b

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 Ppp1r12b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Phosphatase regulatory subunit MYPT2 knockout partially compensates for the cardiac dysfunction in mice caused by lack of myosin light chain kinase 3. The Journal of biological chemistry (March 2023) Ppp1r12bem1(IMPC)J PMC10124902

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ppp1r12btm271260(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppp1r12bem1(IMPC)J Exon Deletion Mice
Ppp1r12btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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