Gene Summary

Name:
apolipoprotein A-IV
Synonyms:
Apoa-4

IMPC Data Collections

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.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Human diseases caused by Apoa4 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 Apoa4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased circulating ceruloplasmi... OMIM:616829
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia OMIM:222100
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:615703
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... OMIM:619281
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypocholesterolemia OMIM:610883
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia OMIM:607765
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... ORPHA:95427
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Polyphagia OMIM:609734
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Diar... OMIM:618108
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Arthritis, Chronic gastritis, Di... OMIM:608809
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia OMIM:614962
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... OMIM:616000
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia ORPHA:329249
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Polyphagia ORPHA:276556
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Polyphagia ORPHA:276575
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Malabsorption, Chroni... OMIM:209920
Trichohepatoenteric Syndrome 2
Diarrhea, Hepatitis, Villous atrophy, Colitis OMIM:614602
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Polyphagia ORPHA:324575
Pick Disease Of Brain
Polyphagia OMIM:172700
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Huntington Disease
Oral-pharyngeal dysphagia, Choking episodes, Abnormal circulating cholesterol concentration, Poly... ORPHA:399
Frontotemporal Dementia
Polyphagia OMIM:600274
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Skin rash, Enterocolitis, Secretory diarrhea, E... OMIM:616050
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Immunodeficiency 58
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Polyphagia ORPHA:276580
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Recurrent otitis... OMIM:614700
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia OMIM:614963
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Shigellosis
Myocarditis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Ulcerative colitis, Vomiting, Pne... ORPHA:810
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Chronic ... ORPHA:911
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia ORPHA:411515
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute pancreatitis, Recur... OMIM:618935
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Graves Disease, Susceptibility To, 1
Polyphagia OMIM:275000
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Temple Syndrome
Polyphagia ORPHA:254516
Cebalid Syndrome
Polyphagia OMIM:618774
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Schaaf-Yang Syndrome
Polyphagia OMIM:615547
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Hypocholesterolemia, Reduced circulating transferrin concentration, S... ORPHA:90363
Man1B1-Cdg
Polyphagia ORPHA:397941
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Trisomy 18P
Polyphagia ORPHA:1715
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Decreased liver function, Maculopapular exanthema, Skin ra... ORPHA:540
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... ORPHA:309031
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Polyphagia ORPHA:251004
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Sandifer Syndrome
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Insulinoma
Polyphagia ORPHA:97279
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Villous atrophy,... OMIM:619381
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix OMIM:614576
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia ORPHA:525731
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polyphagia OMIM:608594
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Polyphagia OMIM:269700
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... ORPHA:29207
Luscan-Lumish Syndrome
Polyphagia OMIM:616831
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... ORPHA:544482
Sepsis In Premature Infants
Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Abd... ORPHA:90051
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... ORPHA:99867
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... ORPHA:3260
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... ORPHA:391487
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Angelman Syndrome
Dysphagia, Polyphagia ORPHA:72
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Polydipsia, Hyperlipidemia, Polyphagia ORPHA:293987
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... ORPHA:90068
Plague
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... ORPHA:707
Gangliocytoma
Polyphagia ORPHA:251937
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Polyphagia, Hypocalcemia, Hyperphosphatemia ORPHA:79444
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatocellular carcinoma, Protuberant abdomen, Gout, Hepatoc... ORPHA:79259
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... ORPHA:562639
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Intractable diarrhea, Hepatoblastoma, Gastritis, Dependency on ... ORPHA:84064
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... ORPHA:3261
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398079
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Anoper... OMIM:618213
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Polyphagia, Hypocalcemia, Hyperphosphatemia ORPHA:79443
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Polyphagia ORPHA:98754
Prader-Willi Syndrome
Polyphagia OMIM:176270
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Polyphagia ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Polyphagia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Polyphagia ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398069
Prader-Willi-Like Syndrome
Bulimia, Polyphagia ORPHA:398073
7Q11.23 Microduplication Syndrome
Polyphagia ORPHA:96121
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... ORPHA:906
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Otitis media, Diarrhea OMIM:600903
Prader-Willi Syndrome
Polyphagia ORPHA:739
Adnp Syndrome
Oral-pharyngeal dysphagia, Polyphagia ORPHA:404448
X-Linked Acrogigantism
Polyphagia ORPHA:300373
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Nephritis, Fulminant hepatitis, Decreased liver... ORPHA:2442
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Hematemesis, Recurrent otitis media, Melena, Chronic... OMIM:301000
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Gastro... OMIM:617137
Craniopharyngioma
Polyphagia ORPHA:54595
Immunodeficiency 87 And Autoimmunity
Cleft palate, Villous atrophy, Feeding difficulties, Increased fecal calprotectin level, Hepatic ... OMIM:619573
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... OMIM:181000
1P36 Deletion Syndrome
Dysphagia, Polyphagia ORPHA:1606
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99413
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Chromosome 1P36 Deletion Syndrome, Distal
Dysphagia, Polyphagia OMIM:607872
Mowat-Wilson Syndrome
Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Vomiting, Gastrointestinal dysm... ORPHA:2152
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia, Polyphagia 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 Apoa4

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 Apoa4.

No publications found that use IMPC mice or data for Apoa4.

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MGI Allele Allele Type Produced
Apoa4tm367334(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Apoa4em1(IMPC)Hmgu Exon Deletion Mice

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