Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

mannosidase 2, alpha B1
lysosomal alpha-mannosidase

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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

Disease Similarity of
Matching phenotypes Source
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Sensorineural hearing impairment, Atrophy/Degeneration affecting the brainstem, Cognitive impairm... OMIM:616192
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal cerebral cortex morphology, Simplified gyral pattern, Abnormal brainstem ... ORPHA:411493
Cach Syndrome
Optic atrophy, Renal hypoplasia, Abnormal pons morphology, Atrophy/Degeneration affecting the bra... ORPHA:135
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Low-set ears, Cognitive impairment, Corneal opacity ORPHA:1532
Congenital Muscular Dystrophy With Cerebellar Involvement
Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Polymicrogyria, Megalocorne... ORPHA:370959
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Irritability, Small basal ganglia, Abnormal brainstem MRI signal intensity, Abnormality of the ba... ORPHA:263410
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Failure to thrive, Abnormal corpus callosum morphology, Abnormal brainstem... ORPHA:255182
Leigh Syndrome With Cardiomyopathy
Optic atrophy, Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Renal agenesis... ORPHA:70474
Leigh Syndrome
Ethylmalonic aciduria, Focal T2 hyperintense brainstem lesion, Neuronal loss in basal ganglia, Ne... ORPHA:506
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Optic atrophy, Myopathy, Skeletal muscle atrophy, Temporal optic disc pallor, ... ORPHA:98673
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Urinary urgency, Atrophy/Degeneration affecting the brainstem, Urinary incontinenc... OMIM:612319
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormality of somatosensory evoked potentials, Skeletal muscle atrophy, Atrophy/D... ORPHA:98755
Usher Syndrome Type 1
Abnormal cochlea morphology, Subcortical cerebral atrophy, Sensorineural hearing impairment, Cata... ORPHA:231169
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia, Failure to thrive, Co... ORPHA:254930
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnorma... ORPHA:3032
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Cognitive impairment, Anemia, Nodular reg... ORPHA:64743
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Pro... ORPHA:206448
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Contractures involving the joints of the... ORPHA:456312
Combined Oxidative Phosphorylation Deficiency 14
Atrophy/Degeneration affecting the brainstem, Gliosis, Anemia, Hearing impairment, Diffuse cerebr... OMIM:614946
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Optic atrophy, Vertigo, Generalized amyotrophy, Hearing impairment, Abnormal brains... ORPHA:79279
Conductive hearing impairment, Recurrent otitis media, Brain stem compression, Megalencephaly OMIM:100800
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dementia, Abnormality of somatosensory evoked potentials, Caudate atrophy, Absent ... ORPHA:52368
Lennox-Gastaut Syndrome
Mental deterioration, Aggressive behavior, Abnormal brainstem morphology ORPHA:2382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Cleft palate, Retinal dysplasia, Renal dysplasia, Peters anomaly, Polymicrogyria, Me... OMIM:236670
Abnormal midbrain morphology, Limb joint contracture, Failure to thrive in infancy, Cerebral whit... ORPHA:356961
Distal Monosomy 10Q
Cleft palate, Enuresis, Anxiety, Low-set ears, Protruding ear, High palate, Morphological abnorma... ORPHA:96148
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Chorioretinal coloboma, Abnormal cerebral cortex morphology, Posteriorly rot... ORPHA:163961
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Duodenal atresia, Posterior pituitary hypoplasia, Micropenis, Unilateral renal agene... ORPHA:464311
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... ORPHA:90646
Joubert Syndrome 1
Optic disc pallor, Brainstem dysplasia, Hepatic fibrosis, Retinal dysplasia, Chorioretinal colobo... OMIM:213300
Coach Syndrome 2
Chorioretinal coloboma, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Molar too... OMIM:619111
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Abnormality of the diencephalon, Ocular albinism, Hypochromic anemia, Hearing impair... ORPHA:2720
Branchiootorenal Syndrome 1
Cleft palate, Dilatated internal auditory canal, Cholesteatoma, Renal dysplasia, Stenosis of the ... OMIM:113650
Usher Syndrome Type 3
Sensorineural hearing impairment, Iris hypopigmentation, Cataract, Vestibular hypofunction, Astig... ORPHA:231183
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly, Abnormality of the ear, Hearing impairment ORPHA:444051
Joubert Syndrome 2
High palate, Brainstem dysplasia, Chorioretinal coloboma, Failure to thrive, Abnormal renal physi... OMIM:608091
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Cognitive impairment, Abnormal brainstem morphology, Elongated superior cerebe... ORPHA:370022
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Optic atrophy, Atrophy/Degeneration affecting the brainstem, Sensorineur... ORPHA:314404
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Optic atrophy, Hypochromic microcytic anemia, Atrophy/Degenerat... ORPHA:66634
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Failure to thrive, Cognitive impairment, Left ventricular hypertro... ORPHA:444013
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Aggressive beh... ORPHA:83597
Fragile X-Associated Tremor/Ataxia Syndrome
Dementia, Urinary bladder sphincter dysfunction, Pollakisuria, Abnormal brainstem morphology, Anx... ORPHA:93256
Alkuraya-Kucinskas Syndrome
High palate, Posteriorly rotated ears, Arthrogryposis multiplex congenita, Micropenis, Hypoplasia... OMIM:617822
Amoebiasis Due To Free-Living Amoebae
Conjunctival hyperemia, Corneal perforation, Abnormality of the medulla oblongata, Abnormal midbr... ORPHA:68
Joubert Syndrome 7
Brainstem dysplasia, Nephronophthisis, Retinal dystrophy, Renal cyst, Abnormal corpus callosum mo... OMIM:611560
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Abnormal pons morphology... ORPHA:79139
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Buphthalmos, Retinal dystrophy, Hypoglycosylation of alpha-dystroglycan... ORPHA:370997
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Macroglossia, Subcortical cerebral atrophy, Oligosacchariduria, Hepatosplenome... ORPHA:309288
Hepatomegaly, High palate, Cerebral white matter atrophy, Atrophy/Degeneration affecting the brai... ORPHA:263487
Bilateral Polymicrogyria
Aplasia/Hypoplasia of the brainstem, Perisylvian polymicrogyria, Facial diplegia, Cognitive impai... ORPHA:268940
Tick-Borne Encephalitis
Leukocytosis, Abnormality of the medulla oblongata, Abnormal cranial nerve morphology, Skeletal m... ORPHA:297
Abnormal prolactin level, Dementia, Abnormality of the pituitary gland, Abnormal brainstem morpho... ORPHA:251937
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Hypospadias, Subretinal deposits, Colpocephaly, Renal dysplasia, Overfol... ORPHA:397715
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Absent muscle fiber merosin, Myositis, Macroglossia, Cognitive impairmen... ORPHA:258
Joubert Syndrome 9
Hepatic fibrosis, Retinal dystrophy, Stage 5 chronic kidney disease, Molar tooth sign on MRI, Cat... OMIM:612285
Ethylmalonic Encephalopathy
Ethylmalonic aciduria, Failure to thrive, Retinal vascular tortuosity, Abnormal brainstem MRI sig... ORPHA:51188
Hypothalamic hypothyroidism, Focal T2 hypointense thalamic lesion, Lower limb muscle weakness, Re... ORPHA:2495
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Corneal scarrin... ORPHA:101330
Xq21 Microdeletion Syndrome
Optic atrophy, Conductive hearing impairment, Dilatated internal auditory canal, Choroideremia, P... ORPHA:1435
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Cleft palate, High palate, Asplenia, Renal dysplasia, Intestina... ORPHA:99776
Familial Acute Necrotizing Encephalopathy
Gliosis, Abnormal putamen morphology, Abnormal brainstem morphology, Cerebral edema, Abnormal bra... ORPHA:88619
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Cleft palate, Congenital stationary night blindness, Abnormal hypot... ORPHA:314621
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Pontocerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cognitive i... ORPHA:171629
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Hepatic fibrosis, Esophageal varix, Nephronophthisis, Multiple s... OMIM:216360
Superficial Siderosis
Dementia, Atrophy/Degeneration affecting the brainstem, Cognitive impairment, Vertigo, Abnormal c... ORPHA:247245
Isolated Complex I Deficiency
Focal T2 hyperintense brainstem lesion, Hepatomegaly, Optic neuropathy, Optic disc pallor, Abnorm... ORPHA:2609
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Nephropathy, Progressive sensorineural hearing impairment, Astrocytosis OMIM:172500
Cystic renal dysplasia, Cleft palate, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobul... OMIM:608022
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Congenital stationary night blindness, Azoospermia, In... ORPHA:8
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Mi... OMIM:617542
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment ORPHA:3233
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Microglossia, Low-set, posteriorly rotated ears, Synotia, Narr... ORPHA:990
Adult-Onset Autosomal Dominant Leukodystrophy
Dementia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Ur... ORPHA:99027
Norrie Disease
Self-injurious behavior, Irritability, Remnants of the hyaloid vascular system, Anxiety, Protrudi... ORPHA:649
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate, Low-set, posteriorly rotated ears, Iris coloboma, Molar toot... ORPHA:220497
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Chorioretinal coloboma, Retinal dystrophy, Low-set, posteriorly rotated ea... ORPHA:2318
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Medullary Thyroid Carcinoma
Lymphadenopathy, Weight loss, Nodular goiter, Abnormal liver parenchyma morphology, Primary hyper... ORPHA:1332
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormality of the optic nerve, Leukoencephalopathy, Abnormal brainstem MRI signal intensity, Cer... ORPHA:83629
Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Agenesis of corpus... ORPHA:1136
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Abnormal midbrain morphology, Hydronephrosis, Limb... ORPHA:444072
Bor Syndrome
Enlarged cochlear aqueduct, Hydronephrosis, Cleft palate, Hypoplasia of the cochlea, Facial palsy... ORPHA:107
Semilobar Holoprosencephaly
Abnormal morphology of the olfactory bulb, Cleft palate, Agenesis of corpus callosum, High palate... ORPHA:220386
Alobar Holoprosencephaly
Abnormal morphology of the olfactory bulb, Cleft palate, Agenesis of corpus callosum, High palate... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal morphology of the olfactory bulb, Cleft palate, Agenesis of corpus callosum, High palate... ORPHA:93926
Lobar Holoprosencephaly
Abnormal morphology of the olfactory bulb, Cleft palate, Agenesis of corpus callosum, High palate... ORPHA:93924
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Adult onset sensorin... ORPHA:268882
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Hearing impairment, Abnormality of the brainstem white matter, Mental det... ORPHA:139396
Neurofibromatosis Type 2
Abnormality of the optic nerve, Posterior subcapsular cataract, Wrist drop, Facial palsy, Cortica... ORPHA:637
Tubulointerstitial nephritis, Lymphadenopathy, Parotitis, Enlargement of parotid gland, Eosinophi... ORPHA:797
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Simple ear, Optic disc hypoplasia, Accessory spleen, Hypoplasia of the brainstem, Hypoplasia of t... OMIM:619306
Joubert Syndrome 6
Chorioretinal coloboma, Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Nephrono... OMIM:610688
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Encephalomalacia ORPHA:231160
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Proximal amyotrophy, Optic atrophy, Cochlear degeneration, Conjunctival telangiectasia, Hearing i... ORPHA:95433
Schinzel-Giedion Syndrome
Hypospadias, Micropenis, Camptodactyly, Low-set ears, Nephroblastoma, Large earlobe, Aganglionic ... ORPHA:798
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal autonomic nervous system physiology, Abnormal midbrain morphology, Celiac disease, Self-... ORPHA:293987
Brain abscess, Conjunctivitis, Splenic abscess, Peritonitis, Abscess, Pyelonephritis, Hearing imp... ORPHA:533
Arima Syndrome
Renal tubular atrophy, Hepatomegaly, Brainstem dysplasia, Hepatic fibrosis, Chorioretinal colobom... OMIM:243910
Duane Retraction Syndrome
Cleft palate, Skeletal muscle atrophy, Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma,... ORPHA:233
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Molar tooth sign on MRI, Pigmentary retinopathy, Prolonged neona... OMIM:612291
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Retinal degeneration, Macroglossia, Vacuolated lymphocytes, Gliosis, Macrotia, Sple... OMIM:248500
Gorham-Stout Disease
Torticollis, Lymphangioma, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Enlarged vestibular aquedu... ORPHA:18
Waardenburg Syndrome, Type 2E
Blue irides, Morphological abnormality of the vestibule of the inner ear, Hypoplasia of the iris,... OMIM:611584
Alpha-Mannosidosis, Infantile Form
Myopathy, Optic disc pallor, Macroglossia, Facial hypotonia, Subcortical cerebral atrophy, Sensor... ORPHA:309282
Photoreceptor layer loss on macular OCT, Rod-cone dystrophy, Elevated circulating thyroid-stimula... ORPHA:79318
Orofaciodigital Syndrome Xiv
Cleft palate, Retinitis, Hamartoma of tongue, Anteriorly placed anus, Retinal coloboma, Abnormali... OMIM:615948
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Brain stem compression, Bilateral conductive hearing impairment OMIM:602080
Osteogenesis Imperfecta
Progressive hearing impairment, Small for gestational age, Nephrolithiasis, Hearing impairment, I... ORPHA:666


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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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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