Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
alkaline phosphatase 3, intestine, not Mn requiring
Synonyms:
Akp-3,  IAP

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.

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 Akp3 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 Akp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hypertriglyceridemia, Childhood-onset truncal obesity ORPHA:71529
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Failure to thrive, Hyperbil... OMIM:605814
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Diarrhea, Vomiting OMIM:615863
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia OMIM:617885
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, ... OMIM:618620
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Temple Syndrome
Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity, Hypertriglyceridemia OMIM:616222
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Cholesteryl Ester Storage Disease
Diarrhea, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Glycerol Kinase Deficiency
Hypertriglyceridemia, Episodic vomiting, Small for gestational age OMIM:307030
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Carcinoma Of Esophagus
Gastroesophageal reflux, Obesity, Weight loss, Dysphagia ORPHA:70482
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Colitis, Decreased HDL cho... OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Increased circulating ferritin concentration, Hypertriglyceridemia, Inflammation of the ... OMIM:300635
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Hyperlipoproteinemia, Type I
Nausea, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, La... OMIM:238600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity, Hypoalbuminemia ORPHA:88643
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Obesity ORPHA:99976
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Smith-Magenis Syndrome
Constipation, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Summitt Syndrome
Obesity OMIM:272350
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased HDL ... ORPHA:247585
Intellectual Developmental Disorder With Autism And Macrocephaly
Constipation, Tall stature, Overweight OMIM:615032
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hyperammonemia, Hypertriglyceridemia OMIM:603471
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol conce... ORPHA:412
Obesity Due To Congenital Leptin Deficiency
Obesity, Hypertriglyceridemia ORPHA:66628
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Hyperbilirubinemia, Diarrhea, Hyperamm... ORPHA:247598
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... OMIM:615980
Adiposis Dolorosa
Constipation, Obesity OMIM:103200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased LDL choles... OMIM:267700
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hypertriglyceridemia ORPHA:179494
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vomiting, Decreased HDL cholesterol concentration, Failure to thrive, Hyper... OMIM:278000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypercholesterolemia, Proportionate tall stature, Failure to thrive, H... ORPHA:528
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Diarrhea OMIM:600955
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:98855
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Nausea, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypertriglyceri... ORPHA:79240
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:435660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Decreased body weight, Hyperlipidemia, Failure t... ORPHA:444490
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Failure to thri... ORPHA:264580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:261
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Constipation, Gastroesophageal reflux, Obesit... ORPHA:819
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... ORPHA:86816
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Blue Diaper Syndrome
Diarrhea, Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Diarrhea, Hypertriglyceridemia OMIM:619313
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Hyperlipidemia ORPHA:2089
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hype... ORPHA:370
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Secretory diarrhea, Hypoalbuminem... OMIM:618183
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Constipation, Elevated circulating creatine kinase concentration, Failure to thrive, Dysph... OMIM:613327
Hypothyroidism, Congenital, Nongoitrous, 6
Constipation, Increased body weight, Increased body mass index OMIM:614450
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Gastroesophageal reflux, Hypoalbuminemia OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, I... OMIM:603553
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia, Truncal obesity OMIM:203800
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Obesity, Overweight, Hyperuricemia, Hype... ORPHA:90041
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:79644
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia ORPHA:369
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia OMIM:609734
Abcd Syndrome
Large for gestational age OMIM:600501
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Halothane Hepatitis
Obesity OMIM:234350
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Increased body weight, Primary hypercortisolism OMIM:615830
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia OMIM:617591
Lysosomal Acid Lipase Deficiency
Weight loss, Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Failure to thrive, Ca... ORPHA:275761
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Increased body weight, Abnormal circulating ... ORPHA:263455
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperalaninemia, Vomiting, Hy... ORPHA:470
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Adrenocortical Carcinoma
Hypokalemia, Elevated serum 11-deoxycortisol, Paradoxical increased cortisol secretion on dexamet... ORPHA:1501
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Methanol Poisoning
Hyperlipidemia, Diarrhea, Vomiting ORPHA:31825
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Gastroesophageal reflux, Obesity, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Inflammation of the large intestine, Xanthelasma, Hyperuric... ORPHA:79259
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdom... ORPHA:189427
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Failure to thrive in infancy, Failure to thrive, Hypertriglyce... OMIM:619418
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Gastrointestinal hemorrhage ORPHA:1414
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
H Syndrome
Hypertriglyceridemia ORPHA:168569
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth ORPHA:199276
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Gastrointestinal hemorrhage, Hyperuricemia ORPHA:35909
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdom... ORPHA:189439
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Small for gestational age, Elevated circulating C-reactive protein concentration, Hy... OMIM:619573
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia ORPHA:167
Lipodystrophy, Congenital Generalized, Type 1
Tall stature, Hypertriglyceridemia OMIM:608594
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Hypercholesterolemia, Failure to thrive, Dysphagia, Hypertriglyceridem... OMIM:606721
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hypertriglyceridemia OMIM:269700
Mody
Large for gestational age, Exocrine pancreatic insufficiency, Obesity, Overweight, Elevated hemog... ORPHA:552
Narcolepsy 7
Obesity OMIM:614250
Sotos Syndrome
Gastroesophageal reflux, Episodic vomiting, Overgrowth, Tall stature, Increased body weight OMIM:117550
Aromatase Deficiency
Tall stature, Obesity, Hyperlipidemia, Eunuchoid habitus ORPHA:91
19P13.12 Microdeletion Syndrome
Obesity, Hyperlipidemia ORPHA:254346
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Failure to thrive, Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia, Dia... OMIM:235400
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Increased LDL cho... ORPHA:77293
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Elevated circulating C-reactive protein concentration, Failure to thrive, Hypertriglyc... OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia, Sma... ORPHA:567983
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Dysphagia, Hypertriglyceridemia OMIM:264090
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Insulinoma
Increased body weight ORPHA:97279
X-Linked Lymphoproliferative Disease
Colitis, Increased circulating ferritin concentration, Hypertriglyceridemia, Inflammation of the ... ORPHA:2442
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormal circulating lipid concentration, Abnormality of body weight, Hypo... ORPHA:2298
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:228308
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Hypertriglyceridemia ORPHA:79474
Glycogen Storage Disease Ia
Xanthelasma, Intermittent diarrhea, Hyperlipidemia, Hyperuricemia OMIM:232200
Magel2-Related Prader-Willi-Like Syndrome
Gastroesophageal reflux, Failure to thrive, Abdominal obesity, Xerostomia, Increased body weight,... ORPHA:398069
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Hypertriglyceridemia, Slender build ORPHA:3455
Hellp Syndrome
Nausea, Increased body weight, Vomiting ORPHA:244242
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Cushing Disease
Truncal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdo... ORPHA:96253
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Hyperlipidemia, Hyponatremia ORPHA:293987
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Truncal obesity, Paradoxical increased cortisol secretion on dexamethasone suppressi... ORPHA:99889
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Alström Syndrome
Hyperlipidemia, Gastroesophageal reflux, Obesity, Truncal obesity, Hypertriglyceridemia ORPHA:64
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Carney Complex
Tall stature, Increased body weight, Increased circulating cortisol level, Abdominal obesity ORPHA:1359

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 Akp3

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 Akp3.

No publications found that use IMPC mice or data for Akp3.

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MGI Allele Allele Type Produced
Akp3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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