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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 4.58×10-05

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.

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
Optic disc pallor, Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Confusion, ... ORPHA:309288
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Pancytopenia, Cataract, Corneal opacity, Recurrent u... ORPHA:309282
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Macroglossi... OMIM:248500

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
Abnormal brainstem morphology, Cognitive impairment, Corneal opacity, Low-set ears ORPHA:1532
Cach Syndrome
Cataract, Progressive neurologic deterioration, T2 hypointense thalamus, Flexion contracture, Opt... ORPHA:135
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Hypoglycosylation of alpha-dystrogly... ORPHA:370959
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Irritability, Confusion ORPHA:263410
Ravine Syndrome
Decreased body weight, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atroph... ORPHA:99852
Pontocerebellar Hypoplasia Type 10
Irritability, Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Cognitive im... ORPHA:300573
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Progressive neurologic deterioration, Abnor... ORPHA:506
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Optic atrophy, Abnormal brainstem morphology, Abnormality of masticatory... ORPHA:98755
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Vertigo, Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy, Hear... ORPHA:79279
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Decreased sensory nerve conduction veloc... ORPHA:456312
Lennox-Gastaut Syndrome
Mental deterioration, Abnormal brainstem morphology ORPHA:2382
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Distal Deletion 10Q
Failure to thrive, Scapular winging, Congenital sensorineural hearing impairment, Functional abno... ORPHA:96148
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Astigmatism,... ORPHA:231183
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... ORPHA:90646
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal thalami... ORPHA:254930
Citrullinemia, Type Ii, Adult-Onset
Confusion, Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ball... OMIM:603471
Usher Syndrome Type 1
Cataract, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Vestibular h... ORPHA:231169
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
20Q11.2 Microdeletion Syndrome
Abnormality of the ear, Brainstem dysplasia, Camptodactyly, Hearing impairment ORPHA:444051
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Retinal detachment, Flexion contracture of finger, Small for gestational age, ... ORPHA:464311
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Abnormal brainstem MRI signal intensity, Dementia, Urinary incontinence ORPHA:320365
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy, Abnormal brainstem morphology, Cognitive impairment, Elongate... ORPHA:370022
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal medulla oblongata morphology, Fa... ORPHA:297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Hypoplasia of the brainstem, Retinal dysplasia, Megalocornea, Agenesis of... OMIM:236670
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, He... OMIM:277900
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology, Attention de... ORPHA:467166
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Confusion, ... ORPHA:309288
Septopreoptic Holoprosencephaly
Short attention span, Abnormal midbrain morphology, Hypoplasia of the pons, Anteriorly placed anu... ORPHA:280195
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Urinary in... ORPHA:206448
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... ORPHA:101330
47,Xyy Syndrome
Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Abnormal brainstem morphol... ORPHA:8
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morph... ORPHA:68
Branchiootorenal Syndrome 1
High palate, Vesicoureteral reflux, Conductive hearing impairment, Bifid uvula, Facial palsy, Dil... OMIM:113650
Joubert Syndrome 1
Optic disc pallor, Retinal dystrophy, Brainstem dysplasia, Protruding tongue, Optic disc coloboma... OMIM:213300
Slc35A2-Cdg
Elevated hepatic transaminase, Failure to thrive in infancy, Limb joint contracture, Camptodactyl... ORPHA:356961
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Abnormal brainstem morphology, Low-set ears, Chorioretinal coloboma, Me... ORPHA:163961
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Decreased response to growth hormone stimula... ORPHA:1435
Arima Syndrome
Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis, Chorioretinal coloboma, Nephr... OMIM:243910
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Intestinal malrotation, Asplenia, ... ORPHA:99776
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Brainstem dysplasia, Optic disc coloboma, Renal cyst, Hyp... OMIM:608091
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... ORPHA:1332
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Cognitive impair... ORPHA:444013
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Urinary incontinence, Sensorineural hearing impairment, Optic atrophy, Depression, Atro... ORPHA:314404
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Cataract, Abnormality of neutrophils, Hearing impairment, Ocula... ORPHA:2720
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Neutrophilia, Abnormal substa... ORPHA:79139
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Microglossia, Narrow internal au... ORPHA:990
Bor Syndrome
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... ORPHA:107
Meningioma
Urinary incontinence, Reduced circulating prolactin concentration, Neoplasm of the anterior pitui... ORPHA:2495
Joubert Syndrome 7
Retinal dystrophy, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of... OMIM:611560
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Abnormal brainstem MRI si... ORPHA:258
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormality of masseter muscle, Abnormal pituitary gland morphology... ORPHA:314621
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane... ORPHA:797
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Depression, Pollakisuria, Dementia, Abnormal autonomic nervous sys... ORPHA:93256
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liver lobulation,... OMIM:608022
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... ORPHA:220386
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... ORPHA:649
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Midlin... OMIM:617542
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Urina... ORPHA:268882
Acute Disseminated Encephalomyelitis
Viral hepatitis, Confusion, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal... ORPHA:83597
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoglycosylation of alpha-dystroglycan, Cataract, Retinal dystrophy, Abnormal brainstem morpholo... ORPHA:370997
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Proximal amyotrophy, Cochlear degeneration, Hearing i... ORPHA:95433
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphol... ORPHA:88619
Alkuraya-Kucinskas Syndrome
Cataract, Posteriorly rotated ears, Hypoplasia of the brainstem, High palate, Kinked brainstem, L... OMIM:617822
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... OMIM:619991
Ethylmalonic Encephalopathy
Retinal vascular tortuosity, Abnormal brainstem MRI signal intensity, Failure to thrive, Ethylmal... ORPHA:51188
Listeriosis
Brain abscess, Liver abscess, Abscess, Abnormal brainstem MRI signal intensity, Jaundice, Periton... ORPHA:533
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Confusion, Hamstring contractures, Facial myokymia, Mental deterioration, M... ORPHA:139396
Gorham-Stout Disease
Lymphangioma, Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Cerebellar-Facial-Dental Syndrome
Cataract, Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorch... ORPHA:444072
Schinzel-Giedion Syndrome
Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Micropenis, Myeloid leukemia, St... ORPHA:798
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Enlarged tectum, Hypoplasia of the brainstem, Low-set ears OMIM:618325
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Pancytopenia, Cataract, Corneal opacity, Recurrent u... ORPHA:309282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Abnormal midbrain morphology, Decreased response to growth hormone... ORPHA:293987
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Macroglossi... OMIM:248500
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Pmm2-Cdg
Elevated hepatic transaminase, Failure to thrive, Cataract, Abnormal pinna morphology, Proteinuri... ORPHA:79318
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Brain stem compression, Bilateral conductive hearing impairment OMIM:602080
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Abnormal optic nerve morphology ORPHA:83629
Osteogenesis Imperfecta
Mixed hearing impairment, Intestinal obstruction, Small for gestational age, Corneal opacity, Fle... ORPHA:666
Achondroplasia
Conductive hearing impairment, Brain stem compression, Recurrent otitis media 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.

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
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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