Gene Summary

autophagy related 7
1810013K23Rik,  Apg7l

IMPC Phenotype Summary

Not Significant
Not tested


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
increased circulating serum albumin level Atg7em1(IMPC)Ccpcz HET   Early adult 3.69×10-05
abnormal embryo size Atg7em1(IMPC)Ccpcz HOM E18.5 0.00
abnormal mammary gland morphology Atg7em1(IMPC)Ccpcz HET Early adult 0.00
abnormal digit morphology Atg7em1(IMPC)Ccpcz HET Early adult 4.54×10-05
abnormal skin morphology Atg7em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Atg7em1(IMPC)Ccpcz HOM   Early adult 0.00
increased circulating total protein level Atg7em1(IMPC)Ccpcz HET Early adult 3.77×10-06
abnormal heart 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

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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.


XRay Images Whole Body Dorso Ventral

34 Images


XRay Images Forepaw

17 Images


XRay Images Whole Body Lateral Orientation

17 Images


XRay Images Skull Dorso Ventral Orientation

17 Images


XRay Images Hind Leg and Hip

34 Images


XRay Images Skull Lateral Orientation

17 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cardiomegaly OMIM:227150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbuminemia OMIM:241600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Abno... ORPHA:1116
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia, Splenomegaly ORPHA:29073
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Partial duplication of thumb phalanx, Clinodacty... OMIM:616730
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Hepatomegaly, Hypoalbuminemia, Talipes ... OMIM:608104
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Syndactyly, Cardiomegaly, Palmoplantar keratoderma OMIM:613576
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Hypoproteinemia, Hepatomegaly, Hypoalbuminemia, Clubbing OMIM:226300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia, Clinodactyly of the 5th finger, Single transverse palmar crease OMIM:608093
Omenn Syndrome
Hypoproteinemia, Hepatomegaly, Hypoplasia of the thymus, Alopecia, Splenomegaly OMIM:603554
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Arachnodactyly, Hepatosplenomegaly OMIM:619013
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia, Decreased response to growth hormone stimuation ... OMIM:618347
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Syndactyly, Cardiomegaly, Cutaneou... OMIM:601005
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Cryptorchidism, Pancreatic lymphangiec... OMIM:235255
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly, ... ORPHA:247585
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Cantu Syndrome
Short hallux, Curly eyelashes, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopubic ... OMIM:239850
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency 27A
Hepatosplenomegaly, Hypoplasia of the femoral head, Hypoalbuminemia, Splenomegaly OMIM:209950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Cryptorchidism, Pancreatic lymphangiec... ORPHA:1655
Hepatomegaly, Pericarditis, Hyperproteinemia ORPHA:509
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Cardiomegaly, S... OMIM:269920
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Synophrys, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Johanson-Blizzard Syndrome
Hypoproteinemia, Dextrocardia, Alopecia, Abnormal cardiac septum morphology, Abnormal hair pattern ORPHA:2315
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Dengue Fever
Hepatomegaly, Hypoproteinemia ORPHA:99828
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619170
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Atrial septal defect, Flared iliac wing, Enlarged kidney, Hirsutism, Coars... OMIM:617303
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia OMIM:614441
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Pericardial effusion ORPHA:90362
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, T... OMIM:255120
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Atrial septal defect, Pericardial lymphangiectasia, Ventricular septal defect, Ca... OMIM:235510
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Abnormal myocardium morphology, Abnormal pericardium morphology ORPHA:340
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hyperammonemi... OMIM:212140
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia OMIM:602579
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Testicular atrophy, Cardiomegaly, Alo... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Lethal Acantholytic Erosive Disorder
2-3 finger syndactyly, 4-5 finger syndactyly, Absent eyelashes, Camptodactyly of toe, Absent eyeb... ORPHA:158687
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Curly eyelashes, Low anterior hairline, Generalized hirsutism, Finger syndactyly, A... ORPHA:1517
Wolcott-Rallison Syndrome
Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Metaphyseal dysplasia, Doub... ORPHA:1667
Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:507
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Refsum Disease, Classic
Elevated levels of phytanic acid, Cardiomyopathy, Cardiomegaly, Short fourth metatarsal OMIM:266500
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal heart morphology, Abnormal salivary gland mo... ORPHA:85443
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hypoalbuminemia, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte... ORPHA:367
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy OMIM:619051
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Ventricular septal defect, Bilateral cry... OMIM:618652
Congenital Enterovirus Infection
Pericardial effusion, Hypoalbuminemia, Myocarditis, Hyperammonemia, Cardiomyopathy ORPHA:292
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction, Single transverse palm... OMIM:253250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Tapered toe, Enlarged kidney, Decrea... OMIM:608836
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia OMIM:617575
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Metaphyseal cupping, Hypoplastic ischia, Iliac crest serration, Short long b... OMIM:613320
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Cardiomegaly, Spl... OMIM:252920
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypopigmentation of hair, Pericard... ORPHA:167
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase conc... OMIM:201475
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Cryptorchidism, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbum... OMIM:618183
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Pancreatic hypoplasia, Cardiomegaly, Mitral valve prolapse, Elbow flexion contract... OMIM:602782
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overridin... OMIM:617022
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinas... ORPHA:42
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Hypoplastic scapulae, Increased serum beta... OMIM:252500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Macroorchidism, Abnormal atrioventricular valve morphology, Aortic val... ORPHA:324410
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Trichorrhexis nodosa, Ventricular septal defect, Sparse hair, Cu... OMIM:222470
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Scapular winging, Distal upper limb muscle weakness, Proximal muscle weakness in upper limbs, Rig... ORPHA:268
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatomegaly, Test... ORPHA:465508
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Shoulder dislocation, Metatarsus adductus, Cardiomegaly, Patent foramen ovale, Mitral... OMIM:245600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Limb undergrowth, Decreased fibular diameter, Fractured r... OMIM:616897
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Neuraminidase Deficiency
Epiphyseal stippling, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology ORPHA:67
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hypoalbuminemia... ORPHA:540
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Uln... OMIM:215140
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Deep palmar crease, Atrial septal defect, Enlarged kidney, Abnormal heart morphology, Thick hair,... ORPHA:505248
Juvenile Polyposis Of Infancy
Clubbing of fingers, Atrial septal defect, Broad thumb, Abnormal heart morphology, Midclavicular ... ORPHA:79076
Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL cholesterol concentra... ORPHA:14
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia OMIM:174900
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Hypocholesterolemia, Hepatomegaly, Hypoalbuminemia, Premature ovarian insuf... OMIM:212065
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly OMIM:618886
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Myocarditis, Elevat... ORPHA:36234
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Mitten deformity, Decreased serum iron, Decreased serum zinc, Hypoalb... ORPHA:89842
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Low posterior hairline, Thin metacarpal cortices, Hirsutism, Thenar mu... ORPHA:2463
Pierson Syndrome
Hypoproteinemia OMIM:609049
Galloway-Mowat Syndrome 3
Camptodactyly, Arachnodactyly, Hip dislocation, Hypoalbuminemia OMIM:617729
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hsd10 Disease, Infantile Type
Hyperammonemia, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Naxos Disease
Palmoplantar keratoderma, Curly hair, Woolly hair, Abnormal morphology of right ventricular trabe... OMIM:601214
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:232300
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Cryptorchidism, Highly arched eyebrow, Short fourth metatarsal, Short dista... OMIM:618143
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Decreased plasma total carnitine, Decreased plasma free carnitine... ORPHA:228308
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Enlarged ovaries, Hirsutism, Abnormal salivary gland morphology, Abnormal ci... ORPHA:2298
Galloway-Mowat Syndrome 1
Camptodactyly, Slender finger, Hypoalbuminemia, Joint contracture of the hand, Hand clenching, Ta... OMIM:251300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Alop... ORPHA:37042
Craniofaciofrontodigital Syndrome
Cubitus valgus, Abnormal heart morphology, Palmoplantar cutis laxa, Hypoplastic pelvis, Cardiomegaly OMIM:114620
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Yunis-Varon Syndrome
Cryptorchidism, Sparse eyebrow, Slender long bones with narrow diaphyses, Metatarsus adductus, Ca... ORPHA:3472
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... ORPHA:308552
Beck-Fahrner Syndrome
Hip dysplasia, Cardiomegaly, Ventricular septal defect OMIM:618798
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Camptodactyly of finger, Parotitis, Flexion contracture of finger, Premature... OMIM:256040
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Alopecia, Hypoalbuminemia, Palmoplantar keratoderma ORPHA:79396
Singleton-Merten Syndrome 1
Genu valgum, Hip subluxation, Expanded metacarpals with widened medullary cavities, Mitral valve ... OMIM:182250
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Hepatomegaly, Thick eyebrow, Cardiomegaly, Splenomegaly, Coxa valga OMIM:230000
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholelithiasis, Hepatomegaly, Hypoalbuminemia, Palmar telangiectasia... ORPHA:171
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly OMIM:603903
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Bile duct proliferation, Hypoalbuminemia OMIM:613658
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Aplasia/hypoplasia involving... ORPHA:3384
Mucopolysaccharidosis Type 3
Hip dysplasia, Genu valgum, Abnormal mitral valve morphology, Thick hair, Hirsutism, Abnormal aor... ORPHA:581
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Synophrys, Cholelithiasis, Ulnar deviation of the wrist, Abn... ORPHA:97297
Hepatomegaly, Cardiomegaly ORPHA:349
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine OMIM:300539
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Juvenile Polyposis Syndrome
Clubbing of fingers, Hypoproteinemia, Neoplasm of the pancreas ORPHA:2929
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Cryptorchidism, Atrial septal defect, Ventricular septal defect, ... OMIM:300967
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Sparse scalp hair, Sparse and thin eyebrow, Hypoalbuminemia, Fine hair, Nail dystrophy, Sparse ey... OMIM:614748
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Abnormal circulating lipid concentration, Hyperc... ORPHA:904
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cryptorchidism, Cardiomegaly, Ventricular septal defect ORPHA:96191
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Pseudohypoparathyroidism, Visceromegaly, Elevated alpha-fetoprot... ORPHA:116
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Cardiomegaly, Ventricular septal defect ORPHA:137675
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Ventricular hypertrophy, Abnormal hip joint morphology, Hypo... ORPHA:51608
Elevated circulating growth hormone concentration, Pericarditis, Aplasia of the ovary, Pericardia... ORPHA:79318
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51


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.

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MGI Allele Allele Type Produced
Atg7tm172409(L1L2_Bact_P) Targeting vectors
Atg7em1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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