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Gene: Ptcd2 MGI:1916177

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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:
pentatricopeptide repeat domain 2
Synonyms:
1190005P08Rik

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 Ptcd2 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 Ptcd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Urinary ... ORPHA:99013
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Mitochondrial hypertroph... OMIM:500013
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number ORPHA:352470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Mac... OMIM:608836
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Dilated cardiomyopathy, Ragged-red muscle fibers, Nephrolithiasis... ORPHA:352447
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d... OMIM:608978
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria OMIM:619063
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Macroglossia, Nephrotic syndrome, F... OMIM:617303
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis,... OMIM:232200
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... OMIM:615578
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, 3-Methylglutaconic ... OMIM:302060
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureter... OMIM:130650
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Decreased activity of ... OMIM:618250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... OMIM:619518
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Hypospad... ORPHA:17
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion ORPHA:91130
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... OMIM:232220
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Alg9-Cdg
Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypopla... ORPHA:79328
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... OMIM:194080
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Abnormal heart morphology, ... ORPHA:505248
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplenomegaly, Abnormal spleen morphol... ORPHA:464329
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... ORPHA:449395
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... ORPHA:116
H Syndrome
Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Camptodactyly, Micropenis, Decreased ... ORPHA:168569
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Decreased fumarate hydratase activi... OMIM:606812
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Macroglossia, Mucopolysacchariduria, C... OMIM:252500
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal urinary odor, Abnormal mitochondrial shape ORPHA:412217
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Nephrolithiasi... ORPHA:79259
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricul... OMIM:300855
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcin... ORPHA:508
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, ... OMIM:312870
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... OMIM:214110
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Facial palsy, Cryptorchidism, Mitral valve prolapse, Abnormal... OMIM:615873
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Enlarged kidney ORPHA:276280
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal urine alpha-ketoglutarat... ORPHA:31
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis, Myocard... ORPHA:391665

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 Ptcd2

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 Ptcd2.

No publications found that use IMPC mice or data for Ptcd2.

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