Gene Summary

piggyBac transposable element derived 5

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired contextual conditioning behavior Pgbd5em1(IMPC)Tcp HOM   Early adult 5.61×10-05
hyperactivity Pgbd5em1(IMPC)Tcp HOM Early adult 2.72×10-09
enlarged salivary gland Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
anophthalmia Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
increased circulating alanine transaminase level Pgbd5em1(IMPC)Tcp HOM Early adult 5.64×10-06
impaired glucose tolerance Pgbd5em1(IMPC)Tcp HOM Early adult 9.59×10-05
increased total body fat amount Pgbd5em1(IMPC)Tcp HOM Early adult 6.09×10-05
abnormal sternum morphology Pgbd5em1(IMPC)Tcp HOM Early adult 0.00
increased grip strength Pgbd5em1(IMPC)Tcp HOM Early adult 2.94×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

94 Images

Eye Morphology

Images Slit Lamp

18 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection


10 Images


XRay Images Skull Lateral Orientation

10 Images



3 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

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
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Meckel Syndrome, Type 8
Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Polydactyly, Microphthalmia, Polycystic ki... OMIM:613885
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod... ORPHA:3378
Microphthalmia, Syndromic 12
Intestinal malrotation, Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Microphtha... OMIM:615524
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... ORPHA:100973
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Ha... OMIM:613091
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Microphthalmia, High palate, 2-5 toe sy... OMIM:206920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, High palate, Polycystic kidney dysplasia, Renal dysplasia, Tapered toe, Elevated ci... OMIM:608836
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia OMIM:619452
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor... ORPHA:411986
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Arthralgia of the hip, Abnormal salivary gland morphol... ORPHA:314652
Smith-Magenis syndrome
Motor stereotypy, Brachydactyly, Self-mutilation, Hyperactivity DECIPHER:8
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Microphthalmia, Cleft palate OMIM:164180
Cerebrooculonasal Syndrome
Hypoplasia of penis, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary medi... ORPHA:66625
Aa Amyloidosis
Abnormal oral mucosa morphology, Nephropathy, Chronic kidney disease, Acute kidney injury, Renal ... ORPHA:85445
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly,... ORPHA:261344
Fryns Microphthalmia Syndrome
Microphthalmia, Bilateral cleft lip, Anophthalmia, Bilateral cleft palate OMIM:600776
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Esophagitis, Anophthalmia, Perineal fistula, Renal hypoplasia/aplas... ORPHA:2538
Hartnup Disorder
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Elevated urinary indoleacet... OMIM:234500
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, C... ORPHA:2470
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Inguinal hernia, Absent in utero rib oss... OMIM:608022
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Inguinal hernia, Nephroblastoma, Umbilical hernia OMIM:618272
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Proteinuria, Polyphagia... ORPHA:251004
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Hypoalbuminemia, Acetabular dy... OMIM:617303
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Dispr... ORPHA:93323
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Insulin-resistant diabetes mellitus, Increased adipo... ORPHA:2457
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Cl... ORPHA:1104
Bifid uvula, Gingival cleft, Unilateral cleft lip, Cryptorchidism, Submucous cleft hard palate, A... ORPHA:2189
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, Thick vermilio... OMIM:618342
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Aggressive behavior, Hyperactivity, Long fingers, Clinodactyly of the 5... OMIM:609425
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Unilateral renal agenesis, Metaphyseal spurs, Umbi... OMIM:618188
Al Amyloidosis
Hypoalbuminemia, Nephrotic syndrome, Xerostomia, Renal insufficiency, Proteinuria, Renal intersti... ORPHA:85443
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Nephrolithiasis, Aggressive b... OMIM:619827
Gand Syndrome
Inappropriate laughter, Thin upper lip vermilion, Long toe, Hyperactivity, Long fingers, Tics, Sh... OMIM:615074
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, Anophthalmia, Anodo... ORPHA:90322
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Progressive alveolar ridge hypertropy,... OMIM:252500
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Polyphagia, Everted lower ... OMIM:615873
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Cryptorchidism, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Mi... ORPHA:77298
H Syndrome
Cleft upper lip, Decreased testicular size, Hepatosplenomegaly, Gingival overgrowth, Hernia, Hall... ORPHA:168569
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hydronephrosis, Hand polydactyly, Tracheoesophageal fistula, Esophageal atresia, U... OMIM:314390
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, High... ORPHA:139471
Walker-Warburg Syndrome
Bifid uvula, Abnormal circulating creatine kinase concentration, Metatarsus valgus, Submucous cle... ORPHA:899
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Natal tooth, Sandal gap, Microphallus, Preaxial polydactyly, Thick upper lip vermilion, Hyperecho... OMIM:612651
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Macrodontia, Open mouth, Cryptorchidism, Tented upper lip ve... ORPHA:228402
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressi... OMIM:615516
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Decreased ... OMIM:232220
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Thick vermilion border, Comp... OMIM:619927
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Th... OMIM:617752
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Oral ulcer, Polycystic ovaries... ORPHA:79259
Obesity Due To Sim1 Deficiency
Memory impairment, Hyperinsulinemia, Glucose intolerance, Polyphagia, Attention deficit hyperacti... ORPHA:369873
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... OMIM:232200
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Thick upper lip vermilion, Short attention span, Open mouth, Thin upper... OMIM:300558
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Short attention span, Cystinuria, Hyperlysinemia, Cognitive imp... OMIM:238700
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Cleft pala... OMIM:610125
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Widely spaced teeth, Vesicoureteral reflux, Self-mutilation, Smooth philtrum, External tibial tor... OMIM:620445
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ... ORPHA:90321
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Progressive psychomotor deterioration, Generalized lipodystrophy, Hyperinsuli... ORPHA:363400
Congenital diaphragmatic hernia, Cryptorchidism, Anophthalmia, Cognitive impairment, Microphthalm... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Multiple lipomas, Ovarian serous cystadenoma, F... ORPHA:276280
Focal Dermal Hypoplasia
Toe syndactyly, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Anophthalm... OMIM:305600
Postprandial hyperglycemia, Insulin resistance, Megarectum, Nephrocalcinosis, Long penis, Hyperin... ORPHA:508
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Generalized lipodystrophy, ... OMIM:608612
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Xerostomia, Cryptorchidism, Dysph... ORPHA:2363
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Hydronephrosis, Aggressive behavior, Attention deficit... OMIM:620141
Broad ischia, Hepatomegaly, Villous atrophy, Thin upper lip vermilion, Short long bone, Omphaloce... ORPHA:79328
Vacterl With Hydrocephalus
Renal agenesis, Inguinal hernia, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Anal atr... ORPHA:3412
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycemia, Hypop... OMIM:276700
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Small hand, Cleft lip, Clinodactyly, Sandal gap, Downturned corners of mouth, Long p... OMIM:618089
Microphthalmia, Syndromic 9
Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia, Inguinal hernia, Cong... OMIM:601186
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology ORPHA:31
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Downturned corners of mouth, Cleft upper lip, Bruxism, Recurrent hand flapping, S... OMIM:613192
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Multipl... ORPHA:464329
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Abnormality of the anterior pituitary, Elevated ci... ORPHA:449395
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Cryptorchidism, 2-3 toe syndactyly, Aggressive behavior, Hernia, Short... ORPHA:3306
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Toe syndactyly, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, ... OMIM:604292
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Inguinal hernia, Submucou... ORPHA:2250
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Hyperbilirubinemia, Cryptorchidism, High ... OMIM:300855
Cri-Du-Chat Syndrome
Cryptorchidism, Overfriendliness, Abnormality of the kidney, High palate, Motor stereotypy, Short... OMIM:123450
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Optic nerve apl... ORPHA:264200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, ... OMIM:129900
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Missing ribs, Supernumerary ribs, Rib fusion, ... OMIM:206900
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic her... OMIM:312870
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Postaxial hand polydactyly, Hy... OMIM:200995
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Anophthalmia, Postaxial polydactyly, S... OMIM:605627
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d... OMIM:194080
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatomegaly, Neonatal hypoglycemia... ORPHA:116
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Cryptorchi... OMIM:130650
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, Renal insufficiency, Spl... OMIM:208540
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long hallux, Bifid ureter... ORPHA:500095
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Long philtrum, Umbilical hernia, Camptodactyly of... ORPHA:1101
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Broad distal phalanx of finger, Inappropriate laughter, Wide mouth, Obsessive-compul... ORPHA:363686
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Nephrotic syndrome, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urin... ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Femoral bowing, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Charge Syndrome
Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Anophthalmia, Microphthalmia, Dysphagia,... ORPHA:138
Seckel Syndrome 1
Ivory epiphyses, Cryptorchidism, High palate, Dislocated radial head, Hypospadias, Cone-shaped ep... OMIM:210600
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preax... ORPHA:564
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract in... ORPHA:731
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly, Hypospadias OMIM:615877
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Hyperglycemi... ORPHA:552
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cone-shaped epiphysis, Cryptorchidism, Brachydactyly, Short metatarsal, Hyperactivit... OMIM:614613
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Bilateral cryptor... ORPHA:485405
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Lymphoid Interstitial Pneumonia
Hepatomegaly, Clubbing, Enlarged kidney, Abnormality of connective tissue ORPHA:79128
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Pancreatic fibrosis, Nodular goiter, Dyspha... ORPHA:64744
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia ORPHA:2717
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Clinodactyly, Cryptorchidism, Anophthalmia, Ren... OMIM:309800
Charge Syndrome
Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Absent radius, Hypoparathyroidism, Micro... OMIM:214800
Microphthalmia, Syndromic 2
Cryptorchidism, Anophthalmia, Contracture of the proximal interphalangeal joint of the 2nd toe, R... OMIM:300166
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Microp... ORPHA:2052
Intellectual Developmental Disorder, X-Linked 107
Thin upper lip vermilion, Aggressive behavior, Attention deficit hyperactivity disorder, Smooth p... OMIM:301013
Holoprosencephaly 9
Cryptorchidism, Anophthalmia, Bilateral cleft palate, Short hard palate, Anterior pituitary hypop... OMIM:610829
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Hernia, Hepatomegaly, Dysphagia, Motor deterior... OMIM:252930
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Short attention span, Thin upper lip vermilion, Aggressive behavior... OMIM:620242
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ... OMIM:618314
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hepatomegaly... OMIM:252920
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eru... OMIM:149730
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology, Abnormal ... ORPHA:252164
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Anophthalmia, Short ribs, Renal cyst, Dysphagia OMIM:615636
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Cryptorchidism, Irregular dentition, Microphthalmia, Anal atresia, H... OMIM:619148
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Abnormal ... ORPHA:247585
Fraser Syndrome 1
Renal hypoplasia, Dental malocclusion, Dental crowding, Cleft upper lip, Bilateral microphthalmos... OMIM:219000
Proteus Syndrome
Rib exostoses, Carious teeth, Finger syndactyly, Open mouth, Abnormal metacarpal morphology, Abno... ORPHA:744
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Open bite, Decreased testicular ... ORPHA:85293
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplastic ilia, Hypoplastic acetabulae, Broad femoral neck, Hypoplasia of... ORPHA:239
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... OMIM:186500
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Hyperactivity,... OMIM:617600
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Cellulitis, Abnormal parotid gland morphology, Parotitis ORPHA:31202
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Renal agenesis, Horseshoe kidney, Posteriorly placed anus, Cardiomega... OMIM:306955
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Cryptorchidism, High palate, Dislocated radial head, Hypospadias... OMIM:122470
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary hesitancy, Hiatus hernia, Hyperactivity, Nocturia, Urinary i... OMIM:609727
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Splenomegaly, Hypercalciuria, Anor... OMIM:181000
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal p... OMIM:154500
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Macroglossia, Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Narrow palate, Dental crowding, Broad hallux, Sandal gap, Long philtrum,... OMIM:616078
Microphthalmia, Syndromic 6
Bifid uvula, Renal hypoplasia, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contracture... OMIM:607932
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Long philtrum, Ureteral agenesis, Anophth... ORPHA:141099
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Short attention span, Recurrent hand flapping,... ORPHA:449291
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Long philtrum, Anophthalmia, Thick vermilion border, Microphthalmia, Panniculitis ORPHA:2526
Distal Deletion 12Q
Overlapping toe, Obsessive-compulsive trait, Ectopic kidney, Duodenal atresia, Polycystic kidney ... ORPHA:96149
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormal dental enamel morphology, Abnormal rectum morphology, Congeni... ORPHA:2556
Branchiooculofacial Syndrome
Abnormality of the dentition, Atypical scarring of skin, Hypospadias, Short thumb, Cleft upper li... OMIM:113620
Meacham Syndrome
Horseshoe kidney, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Enlarged... OMIM:608978
Legius Syndrome
Male urethral meatus stenosis, Short attention span, Nephroblastoma, Polydactyly, Nephrolithiasis... ORPHA:137605
Lynch Syndrome
Memory impairment, Pituitary adenoma, Pancreatic adenocarcinoma, Intestinal polyposis, Salivary g... ORPHA:144
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Tented upper lip vermilion, Congenital diaphragmatic hernia, Inguinal hernia, Cr... OMIM:614294
Blau Syndrome
Nephropathy, Xerostomia, Camptodactyly of finger, Stage 5 chronic kidney disease, Clear cell rena... ORPHA:90340
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Abnormality of the kidney, Elevate... ORPHA:449563
Cardiac-Urogenital Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, 2-3 toe syndactyly, Peno... OMIM:618280
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Cleft upper lip, Cervical ribs, Genu valgum, Vesico... OMIM:164210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad thumb, Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, M... ORPHA:353281
Coffin-Lowry Syndrome
Narrow palate, Bifid sternum, Dental malocclusion, Thick lower lip vermilion, Widely spaced teeth... OMIM:303600
Bifid sternum, Anal atresia, Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Tuberous Sclerosis Complex
Self-injurious behavior, Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chr... ORPHA:805
Ulbright-Hodes Syndrome
Thin ribs, Fibular aplasia, Narrow mouth, Humeroradial synostosis, Cryptorchidism, Aplasia/Hypopl... ORPHA:3404
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Clinodactyly, Genu valgum, Open mouth, Cryptorchidism, Protruding tongue, High palate, Widely-spa... OMIM:309580
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Splenomegaly, Oral ulcer, Elevated circulating C-reactive protein c... ORPHA:50918
Nephrocalcinosis, Parotitis, Enlargement of parotid gland, Renal insufficiency, Nephrolithiasis, ... ORPHA:797
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis ORPHA:252183
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157


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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