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Gene: Apoa2 MGI:88050

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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:
apolipoprotein A-II
Synonyms:
Apoa-2,  Hdl-1,  Alp-2,  ApoA-II

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 Apoa2 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 Apoa2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma OMIM:143890

The table below shows human diseases predicted to be associated to Apoa2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Delayed puberty, Decreased LDL cholesterol concentration... OMIM:616834
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Type I diab... ORPHA:276580
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr... ORPHA:276556
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia OMIM:610883
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in ... ORPHA:79237
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis ORPHA:439232
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... ORPHA:2126
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... ORPHA:199296
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi... ORPHA:263455
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin resistance, Hyper... ORPHA:528
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Familial Mediterranean Fever
Amyloidosis, Renal amyloidosis OMIM:249100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Q Fever
Amyloidosis ORPHA:781
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypoalbuminem... ORPHA:79324
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia, Hypothyroidism OMIM:212065
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... OMIM:616113
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Primary Sclerosing Cholangitis
Amyloidosis ORPHA:171
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... ORPHA:90790
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Smith-Lemli-Opitz Syndrome
Precocious puberty, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hyp... OMIM:270400
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... ORPHA:508
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... OMIM:608594
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-... OMIM:269700
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis ORPHA:653
Muckle-Wells Syndrome
Renal amyloidosis ORPHA:575
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resis... ORPHA:79474
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma OMIM:143890
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis ORPHA:79408
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Reduced thyroxi... 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 Apoa2

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 Apoa2.

No publications found that use IMPC mice or data for Apoa2.

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
Apoa2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Apoa2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apoa2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Apoa2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apoa2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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