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Gene: Gpd2 MGI:99778

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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:
glycerol phosphate dehydrogenase 2, mitochondrial
Synonyms:
Gdm1

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 Gpd2 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.

The table below shows human diseases associated to Gpd2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853

The table below shows human diseases predicted to be associated to Gpd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increa... ORPHA:79237
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrophy, Adipose ti... ORPHA:528
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt... ORPHA:35878
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo... OMIM:182290
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Hypo... ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... OMIM:248370
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ... ORPHA:363400
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... ORPHA:2126
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne... ORPHA:819
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Obesity, Increa... ORPHA:412
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... ORPHA:90673
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L... OMIM:278000
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... ORPHA:264580
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... OMIM:246200
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia, Hyperglycinemia, Failure to thrive, Hypertaurinemia OMIM:245400
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism, Dysphagia OMIM:249310
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I... ORPHA:79240
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism ORPHA:2479
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ... OMIM:613327
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr... OMIM:608594
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... OMIM:218700
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphol... ORPHA:534
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp... ORPHA:230
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c... OMIM:269700
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circula... ORPHA:90041
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting ... ORPHA:159
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficienc... ORPHA:275761
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia OMIM:614654
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre... ORPHA:26793
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Primary Erythromelalgia
Hypothermia ORPHA:90026
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypothermia, Hypoglycemia OMIM:601005
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Xanthelas... ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor ORPHA:363618
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro... OMIM:223360
Bardet-Biedl Syndrome 20
Male hypogonadism, Hypercholesterolemia, Obesity OMIM:619471
Meningococcal Meningitis
Hypothermia, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:33475
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypothermia, Hypoalbuminemia,... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypothermia, Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hypothermia, Anorexia, Hyperammonemia, Weight loss, Recurrent hypoglycem... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Alexander Disease
Diabetes mellitus, Hypothermia, Precocious puberty, Self-injurious behavior, Dysphagia, Failure t... ORPHA:58
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia OMIM:618775
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity, Hypothermia OMIM:618493
Alagille Syndrome 1
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma OMIM:118450
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnormal circulating lep... ORPHA:79474
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Fail... ORPHA:17
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypothermia, Hyperkalemia, Dysp... ORPHA:94093
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Congenital Enterovirus Infection
Hypoalbuminemia, Hypothermia, Hyperammonemia ORPHA:292
Ethylene Glycol Poisoning
Cyanosis, Hypothermia, Hyperkalemia, Addictive alcohol use, Hypocalcemia ORPHA:31826
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Hyperammonemia, Elevated ci... ORPHA:79282
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... ORPHA:488632
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Low plasma citrulline, Dysphagia, Hyperalaninemia, Failure to thrive ORPHA:255210
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat... OMIM:619534
Menkes Disease
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... ORPHA:565
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Hypothermia, Dysphagia ORPHA:99027
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... ORPHA:198
Marburg Hemorrhagic Fever
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggr... ORPHA:99826
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Fasciitis, Impulsivity, Hypothermia, Corneal scarring, Atypical scarr... ORPHA:642
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnor... ORPHA:438213
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Hypothermia, Scarring, Weight loss, Abnormali... ORPHA:797
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64

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 Gpd2

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 Gpd2.

No publications found that use IMPC mice or data for Gpd2.

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
Gpd2tm299871(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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