banner
Genes Phenotypes Help, News, Blog

Gene: Atg7 MGI:1921494

Log in to follow

Gene Summary

Name:
autophagy related 7
Synonyms:
1810013K23Rik,  Apg7l

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Atg7em1(IMPC)Ccpcz HOM E18.5 0.00
abnormal skin morphology Atg7em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Atg7em1(IMPC)Ccpcz HET Early adult 0.00
no spontaneous movement Atg7em1(IMPC)Ccpcz HOM E18.5 0.00
increased circulating total protein level Atg7em1(IMPC)Ccpcz HET Early adult 7.31×10-06
preweaning lethality, incomplete penetrance Atg7em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal retina morphology Atg7em1(IMPC)Ccpcz HET Early adult 6.16×10-06
abnormal heart morphology Atg7em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating serum albumin level Atg7em1(IMPC)Ccpcz HET   Early adult 7.59×10-05
abnormal mammary gland morphology Atg7em1(IMPC)Ccpcz HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

34 Images

View images
X-ray

XRay Images Hind Leg and Hip

34 Images

View images
X-ray

XRay Images Forepaw

17 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

17 Images

View images
X-ray

XRay Images Skull Lateral Orientation

17 Images

View images
FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

View images

Human diseases caused by Atg7 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 Atg7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Optic atrophy OMIM:619422

The table below shows human diseases predicted to be associated to Atg7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... ORPHA:158048
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri... ORPHA:90041
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Lymphangiectasia, Intestinal
Abnormal hair morphology, Neonatal hypoproteinemia OMIM:152800
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, O... ORPHA:509
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Diarrhea 13
Hypoalbuminemia OMIM:620357
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... ORPHA:26793
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Alg6-Cdg
Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration ORPHA:79320
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Johanson-Blizzard Syndrome
Alopecia, Dextrocardia, Abnormal hair pattern, Abnormal cardiac septum morphology, Hypoproteinemia ORPHA:2315
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Primary Intestinal Lymphangiectasia
Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelashes, Hyperalaninemia OMIM:619064
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... OMIM:614702
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasi... OMIM:235255
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Dilated cardiomyo... OMIM:615895
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:616050
Attrv30M Amyloidosis
Cardiomyopathy, Vitreous floaters, Cardiomegaly ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Dengue Fever
Hepatomegaly, Hypoproteinemia ORPHA:99828
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasi... ORPHA:1655
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Hypoplasia of the thymus, Hypoproteinemia OMIM:603554
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... OMIM:266500
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Fair hair OMIM:269920
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia OMIM:608093
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased response to growth hormone stimulation test OMIM:618347
Immunodeficiency 27A
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly OMIM:209950
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration,... OMIM:235200
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... ORPHA:86839
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Perimembranous ventr... OMIM:608104
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Optic atrophy, Low poste... OMIM:617303
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... OMIM:242150
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypo... ORPHA:367
Leishmaniasis
Splenomegaly, Hepatomegaly, Hypoalbuminemia ORPHA:507
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Optic atrophy, Bile duct proliferation, Hypoalbuminemia, Hyperal... OMIM:618329
Chédiak-Higashi Syndrome
Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia... ORPHA:167
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Ret... ORPHA:391428
Immunodeficiency 32B
Splenomegaly, Hepatomegaly, Hypoalbuminemia OMIM:226990
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction OMIM:253250
Mpi-Cdg
Hepatomegaly, Hypoalbuminemia ORPHA:79319
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morpholog... ORPHA:85443
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypoalbuminemia OMIM:617021
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... OMIM:609049
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... OMIM:252920
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de... ORPHA:1667
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Chorioretinal atrophy, Optic atrophy, Hepatospl... OMIM:619487
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Sparse hair, Hy... OMIM:615508
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia ORPHA:292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Cardi... ORPHA:14
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the macula OMIM:256550
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, A... OMIM:619991
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thick hair, Optic atrophy, Abnormal heart morphology, Hepato... ORPHA:505248
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia OMIM:602579
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Trichohepatoenteric Syndrome 1
Hepatomegaly, Curly hair, Brittle hair, Ventricular septal defect, Splenomegaly, Fine hair, Incre... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph... OMIM:239850
Reni Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... ORPHA:540
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology ORPHA:67
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca... OMIM:618183
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hepatoportal Sclerosis
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hypocholestero... OMIM:212065
Alg12-Cdg
Hyponatremia, Retinal detachment, Cryptorchidism, Muscular ventricular septal defect, Low posteri... ORPHA:79324
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly OMIM:618886
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Cryptorchidism, Hy... OMIM:235510
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated ... ORPHA:465508
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dilated cardiomyopathy, Decreased serum zinc, Hypoalbuminemia, Decreased ci... ORPHA:89842
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:608836
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels OMIM:610965
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... OMIM:601214
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydrocele tes... ORPHA:79330
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... OMIM:620306
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Splenomegaly, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Nail dys... ORPHA:37042
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Alopecia, Enlarged polycystic ovaries... ORPHA:2298
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Retinopathy OMIM:603903
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... ORPHA:1517
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia... OMIM:277900
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... ORPHA:90363
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:619259
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Congenital alopecia totalis, Abse... ORPHA:158687
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Amyloid deposition in the vitreous humor, Cardiomegaly OMIM:105210
Juvenile Polyposis Of Infancy
Atrial septal defect, Hypoalbuminemia, Abnormal heart morphology ORPHA:79076
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Galloway-Mowat Syndrome 1
Optic atrophy, Hypoalbuminemia OMIM:251300
Mucopolysaccharidosis Type 3
Hepatomegaly, Thick hair, Cardiomegaly, Retinal degeneration, Splenomegaly, Synophrys, Optic atro... ORPHA:581
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hypoalbuminemia, Nail dystrophy ORPHA:79396
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... OMIM:619534
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Low posterior hairline, Atrial septal... OMIM:245600
Primary Sclerosing Cholangitis
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Neoplasm of the gallbladder, Cho... ORPHA:171
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Marburg Hemorrhagic Fever
Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Elev... ORPHA:99826
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Synophrys, Optic atrophy, Abnormal cardiac septum morphology, Chol... ORPHA:97297
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Hypoalbuminemia, Elevated ... OMIM:270400
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of the macula, Thick eyebrow OMIM:230000
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse eyebrow, Sp... OMIM:252500
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Synophrys, Low posterior hairline, Hirsutism, Cardiomegaly ORPHA:2463
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Highly arched eyebrow, Cardiomegaly OMIM:618143
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Rajab Interstitial Lung Disease With Brain Calcifications 1
Bile duct proliferation, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hypoproteinemia ORPHA:2929
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hypoalbuminemia, Nail dystrophy OMIM:614748
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:365
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Beckwith-Wiedemann Syndrome
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, C... ORPHA:116
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... ORPHA:51608
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Overriding aorta, Bicu... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Yunis-Varon Syndrome
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Cardiomegaly, Sparse eyebrow, Cry... ORPHA:3472
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Pmm2-Cdg
Pericarditis, Elevated circulating growth hormone concentration, Pericardial effusion, Reduced th... ORPHA:79318
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Sub... OMIM:182250
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Optic atrophy OMIM:619422

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 Atg7

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 Atg7.

No publications found that use IMPC mice or data for Atg7.

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
Atg7tm172409(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atg7em1(IMPC)Ccpcz Exon Deletion Mice, Tissue

The IMPC Newsletter

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

Subscribe to newsletter