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Gene: Atg2b MGI:1923809

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Gene Summary

Name:
autophagy related 2B
Synonyms:
2410024A21Rik,  C630028L02Rik,  C030004M05Rik

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IMPC Data Collections

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
increased heart weight Atg2bem1(IMPC)J HOM Early adult 1.56×10-07
abnormal retina morphology Atg2bem1(IMPC)J HOM Early adult 1.62×10-05
increased thigmotaxis Atg2bem1(IMPC)J HOM Early adult 8.95×10-07
abnormal auditory brainstem response Atg2bem1(IMPC)J HOM   Early adult 4.74×10-07
decreased exploration in new environment Atg2bem1(IMPC)J HOM Early adult 2.93×10-08
increased circulating cholesterol level Atg2bem1(IMPC)J HOM Early adult 4.11×10-07
decreased locomotor activity Atg2bem1(IMPC)J HOM Early adult 1.62×10-05

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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.

Electroretinography 3

Fundus file

12 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

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Human diseases caused by Atg2b 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 Atg2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hypothyroidism, Congenital, Nongoitrous, 8
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Steppage gait, Hypercholesterolemia, ... OMIM:607250
Ataxia With Vitamin E Deficiency
Short term memory impairment, Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Dysme... OMIM:277460
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Attention deficit hyperactivity disorder, Hypercholesterolemia, Atrial septal def... OMIM:620211
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Ab... ORPHA:247585
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Head-banging, Hearing impairment, Abnormal heart morphology, ... OMIM:182290
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki... OMIM:208920
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Mohr-Tranebjaerg Syndrome
Mental deterioration, Optic atrophy, Prelingual sensorineural hearing impairment, Shuffling gait,... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Abnormal retinal nerve fiber lay... ORPHA:1215
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Hearing impairment, Pseudobulbar paralysis, Aggressive behavior, ... ORPHA:208441
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... ORPHA:206443
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... OMIM:616828
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Hepat... OMIM:612526
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Focal EEG discharges with secon... ORPHA:3077
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Irritability ORPHA:263501
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Macular atrophy, Senso... OMIM:619260
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulating alpha-f... OMIM:616267
Galactokinase Deficiency
Hepatosplenomegaly, Sensorineural hearing impairment, Hypercholesterolemia, Increased level of ga... ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Memory impairment, Depression, Hyperuricemia, Hypercholesterolemia, Cognitive impairment ORPHA:77296
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Irritability OMIM:616881
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Attention deficit hyperactivity disorder,... ORPHA:819
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Aganglio... OMIM:600501
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Mental deterioration, Ventricular hypertrophy, Undetectable visual evoked potentials, Hypertrophi... OMIM:619051
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Left ventricular hypertrophy, Addictive alcohol use, Hypercholesterolemia, Cog... ORPHA:90065
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Optic d... OMIM:619170
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Restless legs, Gait ataxia, ... ORPHA:101085
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Hearing impairment, Difficulty walking, Confusion, Ab... ORPHA:100924
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Depression, Cardiomyopathy, Limb ataxia, Gait ataxia, Cardiomegaly, Gait disturban... OMIM:619259
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Broad-based gai... ORPHA:206448
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Sensorineural hearing impairmen... OMIM:266500
Cerebrotendinous Xanthomatosis
Optic atrophy, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Temple Syndrome
Recurrent otitis media, Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, Hypercholesterolemia, EEG abnormality, Ataxia, ... ORPHA:2479
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Abnormal auditory evoked potentials, Spastic gait, Abnormality of somatosensory evoked po... ORPHA:99027
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Neuhauser Syndrome
Cupped ear, Large fleshy ears, Hypercholesterolemia, Retinal detachment, Ataxia, Dysphagia OMIM:249310
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:616730
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly, ... OMIM:278000
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Cardiomegaly, Hepatomegaly, Aggressive behavior, Hyperactivity,... OMIM:252920
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased ... ORPHA:528
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Abnormal h... ORPHA:470
Laron Syndrome
Hypercholesterolemia ORPHA:633
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Dilated cardiomyopathy, Hypercholesterolemia ORPHA:401923
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent... ORPHA:90674
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Difficulty walking, Abnormality of per... ORPHA:90321
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... OMIM:619662
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Papilledema, Hypercholesterolemia, Atrial septal defect, Rod-cone dy... OMIM:619471
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery stenosis, Hypertri... OMIM:615812
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:618348
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia ORPHA:96184
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... OMIM:210250
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... OMIM:216400
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Hearing impairment, Elevated circulating crea... OMIM:618838
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Cherry red spot of ... ORPHA:309246
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholestero... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Hypercholesterolemia, Hyperammonemia, Ventricular septal defect OMIM:620454
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morpholo... ORPHA:401973
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Increased circulating ferritin concent... ORPHA:3240
Prader-Willi Syndrome
Self-injurious behavior, Decreased HDL cholesterol concentration, Polyphagia, Attention deficit h... OMIM:176270
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hepatomegal... ORPHA:186
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hepatosplenomegaly, Hyponatremia, Hypercholesterolemia, Cognitive impairment, Hypert... ORPHA:275761
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Steinert Myotonic Dystrophy
Mental deterioration, Depression, Dilated cardiomyopathy, Falls, Oral-pharyngeal dysphagia, Inabi... ORPHA:273
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segmen... OMIM:609136
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Hyperaldosteronism, Low-set, posteriorly rotated ears, Chori... ORPHA:534
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Pigmentary retinopathy, Gait ataxia, Dysmetria, Tinnitus, Hypercholesterolemia, Ort... OMIM:606721
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Decreased nerve condu... OMIM:133540
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... ORPHA:171929
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Mitral valve calcification, Hypercholesterolemia,... ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Cognitive impairment, Hypertrig... ORPHA:79259
Immunodeficiency 47
Splenomegaly, Sensorineural hearing impairment, Hypercholesterolemia, Hepatomegaly, Decreased cir... OMIM:300972
Alagille Syndrome 1
Low-set ears, Pigmentary retinopathy, Tetralogy of Fallot, Chorioretinal atrophy, Ventricular sep... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Hyperbilirubinemia, V... OMIM:619534
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-indu... ORPHA:353281
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Ag... OMIM:309000
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Myocardial steatosis, Hypercholesterolem... ORPHA:391665

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 Atg2b

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 Atg2b.

No publications found that use IMPC mice or data for Atg2b.

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MGI Allele Allele Type Produced
Atg2bem1(IMPC)J Exon Deletion Mice

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