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Gene: Pgbd5 MGI:2429955

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Gene Summary

Name:
piggyBac transposable element derived 5
Synonyms:
2900019M05Rik

Order Alleles

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
impaired contextual conditioning behavior Pgbd5em1(IMPC)Tcp HOM   Early adult 4.84×10-05
abnormal sternum morphology Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
increased grip strength Pgbd5em1(IMPC)Tcp HOM Early adult 3.39×10-05
increased circulating alanine transaminase level Pgbd5em1(IMPC)Tcp HOM Early adult 5.62×10-06
impaired glucose tolerance Pgbd5em1(IMPC)Tcp HOM Early adult 9.60×10-05
anophthalmia Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
enlarged salivary gland Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Pgbd5em1(IMPC)Tcp HOM Early adult 2.40×10-09

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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 Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

94 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Histopathology

Images

3 Images

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Human diseases caused by Pgbd5 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 Pgbd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Polycystic kidney dysplasia, Microphtha... OMIM:613885
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Trisomy 13
Anophthalmia, Median cleft lip, Displacement of the urethral meatus, Abnormality of the dentition... ORPHA:3378
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... ORPHA:100973
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia OMIM:238700
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... OMIM:309548
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... OMIM:613091
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Microphthalmia OMIM:615524
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Renal amyloidosis, Abn... ORPHA:314652
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Anencephaly 2
Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge OMIM:619452
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... ORPHA:90301
Microphthalmia With Limb Anomalies
Anophthalmia, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5t... OMIM:206920
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt... ORPHA:85445
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... ORPHA:411986
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... OMIM:608836
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, Widely spaced teeth, High palate, ... ORPHA:66625
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia OMIM:164180
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... ORPHA:2298
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Hartnup Disorder
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria OMIM:234500
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Hepatomegaly, Multicystic kid... ORPHA:2538
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm... ORPHA:261344
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... ORPHA:251004
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... ORPHA:1104
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancr... ORPHA:2470
Hydrolethalus
Anophthalmia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival c... ORPHA:2189
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Nephrotic syndrome, Flar... OMIM:617303
Diaphanospondylodysostosis
Nephrogenic rest, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Narrow pelvi... OMIM:608022
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Tapered finger, Aggressive behavior, Long fingers, Short... OMIM:609425
Gand Syndrome
Long toe, Thin upper lip vermilion, Hyperactivity, Long fingers, Wide mouth, Short philtrum, Tics... OMIM:615074
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Short attention span, Dental crowding, Persistence of primary teeth,... OMIM:618342
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia OMIM:605899
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Esophageal atre... ORPHA:77298
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... OMIM:314390
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... OMIM:615873
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyperlipidemia, Nephr... OMIM:232220
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abn... ORPHA:899
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Hypospadias, Postaxial polydactyly... OMIM:612651
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Thick vermilion border, Compulsive behaviors, Attention deficit hyperactivity diso... OMIM:619927
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Sandal gap, Macrodontia, Hyperactivity, Cryptorc... ORPHA:228402
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Th... OMIM:618188
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Narrow palate, Diminished ability to concentrate,... OMIM:615516
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Progressive alveolar rid... OMIM:252500
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Increased level of hippuric acid in urine, Elevate... OMIM:261600
Clark-Baraitser Syndrome
Thin upper lip vermilion, Hyperactivity, Sandal gap, Exaggerated cupid's bow, Aggressive behavior... OMIM:617752
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intest... ORPHA:79259
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Hyperactivity, Restlessness, Short attention span, Aggressive behavior,... OMIM:300558
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Widely spaced prim... ORPHA:90322
H Syndrome
Hallux valgus, Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Cleft upper li... ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... OMIM:276700
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short attention span, Hyperactivity, Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small h... OMIM:618089
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo... ORPHA:2363
Smith-Magenis Syndrome
Everted upper lip vermilion, Hypertriglyceridemia, Hyperactivity, Abnormality of the dentition, V... OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Cleft upper lip, Downturned corners of mouth, Short philtrum, Bruxism, Recurrent h... OMIM:613192
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Xerostomia, Enlarged lacrimal glands, Abnormal pa... ORPHA:449432
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Deep philtrum, Hyponatremia, Bilateral cleft lip, Cryptorchidi... ORPHA:2162
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primary teeth, ... ORPHA:90321
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... ORPHA:464329
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Anterior pituitary hypoplas... ORPHA:264200
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata... OMIM:305600
Leprechaunism
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Insulin resistance, Hypercalciuria, ... ORPHA:508
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl... OMIM:206900
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... OMIM:620141
Alg9-Cdg
Smooth philtrum, Hepatomegaly, Hypoplasia of the bladder, Thin upper lip vermilion, Villous atrop... ORPHA:79328
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... OMIM:610829
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polydactyly, Narrow p... OMIM:605627
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Pancreatic cysts,... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Femoral bowing OMIM:615415
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Thin upper lip vermilion, Hyperactivity, Hypospadias, Optic nerve hypoplasia, Long fing... ORPHA:363686
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Vacterl With Hydrocephalus
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Esophageal atresia, Hypop... ORPHA:3412
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Cardiomegaly, Deep philtrum, Short philtrum, High ... OMIM:300855
Cri-Du-Chat Syndrome
Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short philtrum, Abno... OMIM:123450
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Polydipsia, Biliary hyperp... ORPHA:731
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submuc... ORPHA:2250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Meckel Syndrome
Ureteral duplication, Bowing of the long bones, Anophthalmia, Multicystic kidney dysplasia, Aplas... ORPHA:564
Microphthalmia, Syndromic 9
Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Hors... OMIM:601186
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Exaggerated median tongue fur... OMIM:312870
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hyperactivity, Hypospadias, Diabetes mellitus, Cryptorchidism, Short metatarsal... OMIM:614613
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,... ORPHA:485405
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Hyperactivity, Sandal gap, Abnormal finger flexion crease, Hyp... OMIM:210600
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hypoplasia of t... OMIM:200995
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... ORPHA:500095
Charge Syndrome
Anophthalmia, Abnormal tibia morphology, Compulsive behaviors, Vesicoureteral reflux, Clinodactyl... ORPHA:138
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Hypocalcemia, Dysphag... ORPHA:64744
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Thickened ribs, Progressive neurologic deterioration, Cardiomegaly, ... OMIM:252920
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Intellectual Developmental Disorder, X-Linked 107
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:301013
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephro... OMIM:130650
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Vesicoureteral reflux, Nephropathy, He... ORPHA:116
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Short attention span, Aggressive behavior, 2-3 toe cutan... OMIM:620242
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Nephroblastoma, Ovarian ser... ORPHA:276280
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate... OMIM:309800
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Anophthalmia, Toe syndactyly, Multicystic kidney dysplasi... ORPHA:2052
Joubert Syndrome 21
Anophthalmia, Splenomegaly, Renal cyst, Short ribs, Dysphagia, Hyperechogenic kidneys OMIM:615636
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... ORPHA:247585
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Han... OMIM:214800
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia, Hypospadias, ... OMIM:219000
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Camptodactyly of finger, High, narrow palate, Cryptorchidism, Ulnar deviation of fi... ORPHA:1101
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Lymphoid Interstitial Pneumonia
Hepatomegaly, Clubbing, Enlarged kidney ORPHA:79128
Muir-Torre Syndrome
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer ORPHA:587
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... OMIM:619148
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal... OMIM:300166
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Recurrent hand flapping,... OMIM:617600
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Ev... OMIM:252930
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... OMIM:186500
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Tubulointerstitial nephritis,... ORPHA:79078
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal p... OMIM:154500
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Hyperactivity, Sandal gap, Broad hallux, Dental crowding, Aggressive be... OMIM:616078
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Splenomegaly, Clubbing, Hypercalciuria, Enlarged lacrimal glands, Inflamm... OMIM:181000
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly OMIM:261740
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behav... ORPHA:449291
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Agenesis of canine, Orofacial cl... ORPHA:141099
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Cryptorchidism, Renal hypopla... OMIM:607932
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Hiatus hernia, Urinary hesitancy, Urinary urgency, Neonatal ... OMIM:609727
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoa... OMIM:235510
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Posteriorly placed anus, ... OMIM:306955
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Melioidosis
Abnormal parotid gland morphology, Parotitis ORPHA:31202
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, ... ORPHA:96149
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology, Abnormal ... ORPHA:252164
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Orchitis, Abnor... ORPHA:449563
Blau Syndrome
Clear cell renal cell carcinoma, Camptodactyly of finger, Splenomegaly, Xerostomia, Stage 5 chron... ORPHA:90340
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Renal agenesis, Proximal placement of thumb, Cleft upper lip, Malrotat... OMIM:113620
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum ORPHA:2526
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Epispadi... ORPHA:2556
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Mend Syndrome
Hyperactivity, Broad hallux, Overlapping toe, Asymmetry of the mouth, Aggressive behavior, Long f... ORPHA:401973
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Tented upper lip vermilion, Cleft upper lip, Long fingers, Cryptorchidism, Cleft p... OMIM:614294
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Cleft upper lip, Part... OMIM:164210
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, 2-3 t... OMIM:618280
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Ulbright-Hodes Syndrome
Maternal diabetes, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Cryptorc... ORPHA:3404
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Kikuchi-Fujimoto Disease
Hepatomegaly, Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Oral... ORPHA:50918
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vesicoureteral... OMIM:309580
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Enlarged lacrimal glands, Nephrolithiasis, Hype... ORPHA:797
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183

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.

Phenotype Allele Zygosity Sex Life Stage
Lung - MPATH pathological process term inflammation Pgbd5em1(IMPC)Tcp HOM Early adult

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 Pgbd5.

No publications found that use IMPC mice or data for Pgbd5.

Order Mouse and ES Cells

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
Pgbd5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pgbd5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pgbd5em1(IMPC)Tcp Exon Deletion Mice

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