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Gene: Man2b1 MGI:107286

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Gene Summary

Name:
mannosidase 2, alpha B1
Synonyms:
lysosomal alpha-mannosidase

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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
decreased locomotor activity Man2b1em1(IMPC)H HOM Early adult 3.03×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Phenotype associated images not available

Human diseases caused by Man2b1 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 Man2b1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alpha-Mannosidosis, Adult Form
Cataract, Macroglossia, Depression, Oligosacchariduria, Confusion, Hepatosplenomegaly, Pancytopen... ORPHA:309288
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Sensorineural hearing impairment, Retinal degeneration, Vacuolated lymphocytes, Gli... OMIM:248500
Alpha-Mannosidosis, Infantile Form
Cataract, Macroglossia, Depression, Oligosacchariduria, Recurrent urinary tract infections, Confu... ORPHA:309282

The table below shows human diseases predicted to be associated to Man2b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Gómez-López-Hernández Syndrome
Low-set ears, Abnormal brainstem morphology, Cognitive impairment, Corneal opacity ORPHA:1532
Cach Syndrome
Cataract, Renal hypoplasia, Optic atrophy, Lateral ventricle dilatation, Hepatosplenomegaly, Irri... ORPHA:135
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Muscular dystrophy, Abnormality iris morphology, Hypoplasia of the pons,... ORPHA:370959
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Confusion, Irritability, Abnormal brainstem MRI signal intensity ORPHA:263410
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Abnormal brainstem morphology, Decreased ... ORPHA:99852
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Irritability, Abnormal brainstem morphology ORPHA:411493
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Lennox-Gastaut Syndrome
Vertigo, Mental deterioration, Irritability, Abnormal brainstem morphology ORPHA:2382
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Abnormal brainstem morphology, Agenesis of ... ORPHA:300573
Leigh Syndrome
3-Methylglutaconic aciduria, Agenesis of corpus callosum, Myopathy, Sensorineural hearing impairm... ORPHA:506
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Memory impairment, Lateral ventricle dilatation, Frontal lobe dementia, Abn... OMIM:221770
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Failure to thrive, Hepatocellular necrosis, Emotional labi... OMIM:256000
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Hearing impairment, Vertigo, Abnormal brainstem morphology, Hepatomegaly, Generali... ORPHA:79279
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Memory impairment, Skeletal muscle atrophy, Ab... ORPHA:98755
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Decreased motor nerve conduction velocity, Foot... ORPHA:456312
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Failure to thrive, Agenesis of corpus callosum ORPHA:255182
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Vestibular hypofunction, Astigmatism, Sensorineural ... ORPHA:231183
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Acute kidney injury, Functional abnormality of the bl... ORPHA:96148
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se... ORPHA:90646
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb... ORPHA:254930
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Depression, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Ery... OMIM:301310
20Q11.2 Microdeletion Syndrome
Camptodactyly, Brainstem dysplasia, Abnormality of the ear, Hearing impairment ORPHA:444051
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Confusion, Hepatic ste... OMIM:603471
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Depression, Vestibular hypofunction, Sensorineural hearing impai... ORPHA:231169
Mohr-Tranebjaerg Syndrome
Mental deterioration, Optic atrophy, Prelingual sensorineural hearing impairment, Abnormal vestib... ORPHA:52368
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Ankle flexion contracture, Failure to thrive, Duodenal atresia, Abnorm... ORPHA:464311
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle, Retinal atrophy, Cognitive... ORPHA:370022
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Elevated circulating hepatic transaminase concentration, S... ORPHA:297
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Urinary inconti... ORPHA:206448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Atresia of the external auditory canal, Megalocornea, Cryptorchidism, Agenesis of c... OMIM:236670
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Abnormal brainstem morphology, Attention deficit hyperactivity diso... ORPHA:467166
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria... OMIM:120330
Alpha-Mannosidosis, Adult Form
Cataract, Macroglossia, Depression, Oligosacchariduria, Confusion, Hepatosplenomegaly, Pancytopen... ORPHA:309288
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Anteriorly placed anus, Short attention spa... ORPHA:280195
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
47,Xyy Syndrome
Low-set ears, Abnormal brainstem morphology, Azoospermia, Cryptorchidism, Attention deficit hyper... ORPHA:8
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilatati... OMIM:620371
Wilson Disease
Kayser-Fleischer ring, Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis,... OMIM:277900
Joubert Syndrome 1
Nephropathy, Macroglossia, Hepatic fibrosis, Low-set ears, Optic disc coloboma, Hypoplasia of the... OMIM:213300
Cockayne Syndrome
Lentiglobus, Mental deterioration, Cryptorchidism, Cachexia, Cognitive impairment, Urinary incont... ORPHA:191
Slc35A2-Cdg
Abnormal midbrain morphology, Elevated circulating hepatic transaminase concentration, Lateral ve... ORPHA:356961
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Corneal perforation, Myocardial necrosis, Increased red blood cell ... ORPHA:68
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct... OMIM:113650
Arima Syndrome
Chorioretinal coloboma, Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis, Mol... OMIM:243910
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Joubert Syndrome 2
Low-set ears, Nephronophthisis, Failure to thrive, Optic disc coloboma, Hypoplasia of the brainst... OMIM:608091
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl... ORPHA:1435
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Meckel diverticulum, Chorioretinal coloboma, Abnormal brainstem morphology, Posteri... ORPHA:163961
Mosaic Trisomy 9
Low-set ears, Camptodactyly of finger, Horseshoe kidney, Intestinal malrotation, Cryptorchidism, ... ORPHA:99776
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Nodular goi... ORPHA:1332
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Left ventricular hypertrophy, Cognitive impairment, Right ventricular hypertro... ORPHA:444013
Japanese Encephalitis
Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Skeletal muscle atrophy,... ORPHA:79139
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, Ocular albinism, Abnorma... ORPHA:2720
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Optic atrophy, Memory impairment, Cataract, Dilated third ventricle, Depres... ORPHA:314404
Gangliocytoma
Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Adr... ORPHA:251937
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Abnormal retinal vascular morphology, Cognitive impairment, Optic disc pall... ORPHA:909
Meningioma
Lower limb muscle weakness, Increased circulating prolactin concentration, Emotional lability, Ne... ORPHA:2495
Bor Syndrome
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Stenosi... ORPHA:107
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial... ORPHA:990
Joubert Syndrome 7
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas... OMIM:611560
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Optic atrophy, Nodular regenerative hyperplasia of liver, Elevated cir... ORPHA:404454
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Hearing impairment, Volvulus, Agenesis of corpus callosum, Abnormal... ORPHA:314621
Sarcoidosis
Abnormal lymph node morphology, Weight loss, Hepatomegaly, Tubulointerstitial nephritis, Cataract... ORPHA:797
Diaphanospondylodysostosis
Low-set ears, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Cleft palate, Enlarged kid... OMIM:608022
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Astrocytosis, Protruding t... ORPHA:258
Fragile X-Associated Tremor/Ataxia Syndrome
Memory impairment, Depression, Urinary bladder sphincter dysfunction, Abnormal brainstem morpholo... ORPHA:93256
Semilobar Holoprosencephaly
Bifid uvula, Depression, Failure to thrive, Decreased response to growth hormone stimulation test... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Depression, Failure to thrive, Decreased response to growth hormone stimulation test... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Depression, Failure to thrive, Decreased response to growth hormone stimulation test... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Depression, Failure to thrive, Decreased response to growth hormone stimulation test... ORPHA:93924
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Midline brainstem cleft, Hypoplasia of the pons, Agenesis o... OMIM:617542
Congenital Disorder Of Deglycosylation 1
Low-set ears, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Chondroi... OMIM:615273
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Brain stem compression, Cranial nerve compression, Verti... ORPHA:268882
Acute Disseminated Encephalomyelitis
Mental deterioration, Viral hepatitis, Confusion, Irritability, Optic neuritis, Abnormal thalamic... ORPHA:83597
Norrie Disease
Abnormal helix morphology, Cryptorchidism, Sensorineural hearing impairment, Abnormal vitreous hu... ORPHA:649
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Memory impairment, Bilateral vestibular schwannoma, Brain stem co... ORPHA:637
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Cataract, Periportal fibrosis, Elevated circulating hepatic transaminase concentra... OMIM:124000
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Conjunctival telangiectasia, Proximal a... ORPHA:95433
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Depression, Low frustration tolerance, Orthostatic hypotension due to auton... ORPHA:411602
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Abnormal brainstem morphology, Gliosis, Abnormal brainstem MRI sign... ORPHA:88619
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Abnormal brainstem morphology, Hypoglycosylation of alpha-dystroglycan, Buphthalmos, Ab... ORPHA:370997
Ethylmalonic Encephalopathy
Failure to thrive, Retinal vascular tortuosity, Ethylmalonic aciduria, Abnormal brainstem MRI sig... ORPHA:51188
Alkuraya-Kucinskas Syndrome
Low-set ears, Cataract, Hypoplasia of the brainstem, Posteriorly rotated ears, Camptodactyly, Kin... OMIM:617822
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ... OMIM:203700
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Listeriosis
Acute kidney injury, Brain abscess, Hearing impairment, Pyelonephritis, Cholecystitis, Rhabdomyol... ORPHA:533
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... OMIM:619991
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Hearing impairment, Confusion, Hamstring contractures, S... ORPHA:139396
Gabriele-De Vries Syndrome
Low-set ears, Decreased response to growth hormone stimulation test, Breast hypoplasia, Distal lo... ORPHA:506358
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Cataract, Low-set ears, Foot joint contracture, Hypoplasia of the p... ORPHA:444072
Gorham-Stout Disease
Lymphangioma, Abnormality of the internal auditory canal, Hearing impairment, Torticollis ORPHA:73
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Sensorineural hearing impairment, Retinal degeneration, Vacuolated lymphocytes, Gli... OMIM:248500
Lissencephaly 9 With Complex Brainstem Malformation
Low-set ears, Enlarged tectum, Hypoplasia of the pons, Hypoplasia of the brainstem OMIM:618325
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... ORPHA:798
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmentation of the fundus, Ocular albinism, Hypoplasia of the iris, A... OMIM:611584
Alpha-Mannosidosis, Infantile Form
Cataract, Macroglossia, Depression, Oligosacchariduria, Recurrent urinary tract infections, Confu... ORPHA:309282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Elevated circulating hepatic transaminase concentration, Depression... ORPHA:293987
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal optic nerve morphology, Abnormal brainstem MRI signal intensity ORPHA:83629
Pmm2-Cdg
Cataract, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to t... ORPHA:79318
Paget Disease Of Bone 2, Early-Onset
Brain stem compression, Bilateral conductive hearing impairment, Hydroxyprolinuria OMIM:602080
Osteogenesis Imperfecta
Brain stem compression, Hearing impairment, Progressive hearing impairment, Intestinal obstructio... ORPHA:666
Achondroplasia
Recurrent otitis media, Conductive hearing impairment, Brain stem compression OMIM:100800

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 Man2b1

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 Man2b1.

No publications found that use IMPC mice or data for Man2b1.

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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
Man2b1em1(IMPC)H Inter-exon deletion Mice
Man2b1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Man2b1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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