Gene Summary

phosphogluconate dehydrogenase

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
abnormal bone mineralization Pgdtm1a(EUCOMM)Wtsi HET Early adult 4.04×10-11
increased lactate dehydrogenase level Pgdtm1a(EUCOMM)Wtsi HET Early adult 2.84×10-09
abnormal bone structure Pgdtm1a(EUCOMM)Wtsi HET Early adult 3.77×10-08
increased bone mineral content Pgdtm1a(EUCOMM)Wtsi HET Early adult 1.48×10-08
increased circulating aspartate transaminase level Pgdtm1a(EUCOMM)Wtsi HET Early adult 3.70×10-13
absent testes Pgdtm1a(EUCOMM)Wtsi HET Early adult 6.88×10-07

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Pgd 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 Pgd by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Osteomalacia OMIM:193100
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Rickets OMIM:607748
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Bone cyst, Osteolysis, ... ORPHA:93160
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Increased circulating beta-C-terminal telopeptide level, ... ORPHA:157215
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Rickets, Osteomalacia ORPHA:89937
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemic rickets, Parathyroid hyperplasia, Hyperparathyroidism, Hypophosph... OMIM:612089
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, H... OMIM:600081
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Osteopenia, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Secondary hyperparathyroidism... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Hypocalcemia, Increased susceptibility to fracture... ORPHA:289157
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Goiter, Polyostotic fibrous dysplasia, Eleva... ORPHA:562
Fibrous Dysplasia Of Bone
Cortical irregularity, Precocious puberty in females, Fibrous dysplasia of the bones, Hypercalcem... ORPHA:249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Secondary hyperparathyroidism... OMIM:277440
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... OMIM:300009
Infantile Systemic Hyalinosis
Joint stiffness, Osteopenia, Recurrent fractures, Polycystic ovaries, Osteoporosis, Increased sus... ORPHA:2176
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Hypophosphatemia, Osteomalacia OMIM:307800
Dent Disease
Sparse bone trabeculae, Recurrent fractures, Hyperuricosuria, Osteomalacia, Thin bony cortex, Ele... ORPHA:1652
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia, Osteomalacia OMIM:227810
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets OMIM:607765
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Osteoporosis, Osteomalacia, Joint hyperflexibility, Rickets ORPHA:1901
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Elevated circulating luteinizing hormon... ORPHA:90797
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Rickets, Hypouricemia OMIM:616026
Wilson Disease
Osteoarthritis, Osteoporosis, Joint hypermobility, Osteomalacia, Hypoparathyroidism, High nonceru... OMIM:277900
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Primary hyperparathyroidism, Osteomalacia, Hypermagnesemia, Hypophosphatemia OMIM:600740
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Contracture of the proximal interphalangeal joint of the 5th f... ORPHA:2232
Hypophosphatemic Rickets
Joint stiffness, Fibrous dysplasia of the bones, Craniofacial osteosclerosis, Hypercalcemia, Oste... ORPHA:437
Hypokalemia, Hypophosphatemia, Rickets ORPHA:213
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
Fanconi-Bickel Syndrome
Hypophosphatemia, Osteopenia, Rickets, Hypertriglyceridemia ORPHA:2088
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, External genital hypoplasia, Arthrog... ORPHA:2671
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Hypercholesterolemia, Cryptorchidism, Elevated amniotic fluid alpha-fetoprotein, ... OMIM:309000
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Increased susceptibility ... ORPHA:3337
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Osteomalacia, Hypermagnesemia, Ren... ORPHA:405
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Osteopenia, Bile duct proliferation, Joint laxity, Hypocalcemia, Thin bony cortex,... OMIM:613658
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Osteoporosis, Rickets OMIM:212750
Distal Renal Tubular Acidosis
Hypokalemia, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density, R... ORPHA:18
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Rickets ORPHA:411629
Occipital Horn Syndrome
Osteopenia, Osteoporosis, Osteomalacia, Synostosis of joints, Osteolysis, Joint hyperflexibility,... ORPHA:198
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Joint stiffness, Recurrent fractures, Hyponatremia, Hypercholesterolemia, Hyperparat... ORPHA:534
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Male hypogonadis... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Cryptorchidism, Osteoporosis, Osteomalacia, Abnormally ossified vertebrae, Rickets ORPHA:2636
Leopard Syndrome 1
Cryptorchidism, Micropenis, Aplasia of the ovary, Limited elbow movement, Hypospadias, Hypoplasia... OMIM:151100
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Osteomalacia, Osteomyelitis, Hypoalbuminem... OMIM:619381
Limb-Mammary Syndrome
Aplasia of the uterus, Absent nipple, Aplasia of the ovary, Hypoplastic nipples, Breast aplasia, ... ORPHA:69085
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Pancreatic ca... ORPHA:51608
Hypogonadotropic hypogonadism, Osteopenia, Multiple joint contractures, Joint laxity, Osteoporosi... ORPHA:79318


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 Pgd

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 Pgd.

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

Title Journal IMPC Allele PubMed ID
Oxidative pentose phosphate pathway controls vascular mural cell coverage by regulating extracellular matrix composition. Nature metabolism (January 2022) Pgdtm1a(EUCOMM)Wtsi 35102339

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MGI Allele Allele Type Produced
Pgdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pgdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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