Gene Summary

Name:
phosphogluconate dehydrogenase
Synonyms:
0610042A05Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating aspartate transaminase level Pgdtm1a(EUCOMM)Wtsi HET Early adult 3.70×10-13
abnormal bone mineralization Pgdtm1a(EUCOMM)Wtsi HET Early adult 4.04×10-11
preweaning lethality, complete penetrance Pgdtm1a(EUCOMM)Wtsi HOM   Early adult 0.00
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
absent testes Pgdtm1a(EUCOMM)Wtsi HET Early adult 6.88×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
phenotypes
Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... ORPHA:93160
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Rickets, Hypophosphatemic rickets, Parathyroid hyperplasia, Hypophosphatemia... OMIM:612089
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... OMIM:241530
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Secondary hyperparathyroidism, Hypocalcemia, Sparse bon... OMIM:264700
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Mccune-Albright Syndrome
Precocious puberty, Aneurysmal bone cyst, Increased circulating prolactin concentration, Osteomal... ORPHA:562
Fibrous Dysplasia Of Bone
Precocious puberty in females, Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture,... ORPHA:249
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Secondary hyperparathyroidism, Sparse bone trabeculae, ... OMIM:277440
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthritis, Abnormal circu... OMIM:307800
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Increased susceptibility to fractures, Sp... ORPHA:289157
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Rickets, Conjugated hyperbilirubinemia OMIM:607765
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe... ORPHA:1652
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia, Rickets OMIM:616026
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia,... ORPHA:2232
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Osteomalacia, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
Cystinosis
Hypokalemia, Hypophosphatemia, Rickets ORPHA:213
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Increased serum bile acid concentration,... OMIM:227810
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Hypogonadism, External genital hypoplasia, Ambiguous genitalia... ORPHA:2671
Fanconi-Bickel Syndrome
Osteopenia, Hypophosphatemia, Rickets, Hypertriglyceridemia ORPHA:2088
X-Linked Hypophosphatemia
Rickets, Limitation of joint mobility, Generalized osteosclerosis, Hypophosphatemia, Arthritis, E... ORPHA:89936
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Camptodactyly ... OMIM:309000
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Hypocalcemia OMIM:212750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Small scrotum, Rickets, Hypocalcemia, Joint hypermobility, Thin bony... OMIM:613658
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... ORPHA:3337
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Reduced bone mineral d... ORPHA:18
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets ORPHA:411629
Wilson Disease
Hypouricemia, Hypoalbuminemia, Osteomalacia, Hyperbilirubinemia, Increased circulating copper con... OMIM:277900
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Vertebral fusion, Hypo... ORPHA:3109
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Osteomalacia, Joint stiffness, Azoospermia, Cryptorchidism, Joint hypermobil... ORPHA:534
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Hypoph... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Cryptorchidism, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... OMIM:248250
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Anoperineal fistula, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulatin... OMIM:619381
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Limited elbow movement, Hypoplasia of the ovary, Micropenis... OMIM:151100
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Generalized Arterial Calcification Of Infancy
Osteomalacia, Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Pancreatic ca... ORPHA:51608
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Increased circulating prolactin concentration, Hyperplastic labia ma... ORPHA:79318

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 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

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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter