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Gene: Bcas1 MGI:1924210

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Gene Summary

Name:
brain enriched myelin associated protein 1
Synonyms:
NABC1,  2210416M21Rik,  breast carcinoma amplified sequence 1,  9030223A09Rik

Order Alleles

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
abnormal lung morphology Bcas1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

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Gross Pathology and Tissue Collection

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Skull Lateral Orientation

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Eye Morphology

Images Ophthalmoscopy

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Human diseases caused by Bcas1 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 Bcas1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Immunodeficiency 37
Infectious encephalitis, Recurrent infections, Colitis OMIM:616098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:214400
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Bare Lymphocyte Syndrome, Type Ii
Infectious encephalitis, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, C... OMIM:209920
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral hypomyelination, Aggressive behavior, CNS hypomyelination ORPHA:369939
Null Syndrome
Demyelinating peripheral neuropathy, Peripheral demyelination, CNS hypomyelination ORPHA:280234
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, CNS hypomyelination OMIM:616494
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Mollus... OMIM:618982
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Delayed CNS myelination, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Zika Virus Disease
Conjunctivitis, Acute demyelinating polyneuropathy, Myelitis, Skin rash, Arthritis, Meningitis, I... ORPHA:448237
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy, Irritability OMIM:619864
Kaya-Barakat-Masson Syndrome
Irritability, CNS hypomyelination OMIM:619125
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Irritability, CNS hypomyelination OMIM:615281
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Aggressive behavior, Self-injurious behavior, CNS hypomyelination OMIM:620023
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Prostatitis, Recurrent ur... OMIM:307200
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Emotional lability OMIM:603896
Pfapa Syndrome
Arthritis, Infectious encephalitis, Recurrent pharyngitis ORPHA:42642
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination OMIM:619688
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Hartnup Disease
Skin rash, Infectious encephalitis, Emotional lability, Anxiety ORPHA:2116
Adenylosuccinase Deficiency
Aggressive behavior, Cerebral hypomyelination, Happy demeanor, Inappropriate laughter, CNS hypomy... OMIM:103050
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Nipah Virus Disease
Infectious encephalitis, Recurrent pharyngitis ORPHA:99825
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Fulminant hepatitis, Recurrent pharyngitis, Meningitis, Infe... OMIM:308240
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Aspergillosis
Osteomyelitis, Bronchiectasis, Hepatitis, Unusual CNS infection, Invasive pulmonary aspergillosis... ORPHA:1163
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination ORPHA:527497
Pelizaeus-Merzbacher Disease
Sudanophilic leukodystrophy, Abnormal CNS myelination, Apathy, Cerebral dysmyelination, CNS hypom... OMIM:312080
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Folinic Acid-Responsive Seizures
Cerebral hypomyelination, Irritability, Delayed myelination ORPHA:79097
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Lyme Disease
Arthritis, Infectious encephalitis, Meningitis, Uveitis ORPHA:91546
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Onion bulb formation, CNS hypomyelination OMIM:610532
Ddost-Cdg
Recurrent ear infections, CNS hypomyelination ORPHA:300536
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Severe varicella zoster infection, Osteomyelitis, Severe infection... ORPHA:36234
Scrub Typhus
Skin rash, Meningitis, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination OMIM:616577
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Paroxysmal bursts of laughter, Aggressive behavior, Happy demeanor, Emotional lability, Delayed C... OMIM:619580
Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, CNS hypomyelination OMIM:617951
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, CNS hypomyelination OMIM:618367
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Menin... OMIM:614379
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, CNS hypomyelination OMIM:607694
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Congenital Enterovirus Infection
Hepatitis, Skin rash, Irritability, Meningitis, Infectious encephalitis, Myocarditis ORPHA:292
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy OMIM:616859
Hereditary Methemoglobinemia
Cerebral hypomyelination, Delayed myelination ORPHA:621
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Lymphoproliferative Syndrome 2
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Uveitis, Recurrent pne... OMIM:615122
Glutamine Deficiency, Congenital
Recurrent respiratory infections, CNS hypomyelination OMIM:610015
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, CNS hypomyelination, Arthritis OMIM:619423
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, CNS demyelination, Meningitis, Infectious encephalitis, Irritability OMIM:603553
Acute Disseminated Encephalomyelitis
Severe Epstein Barr virus infection, Herpes simplex encephalitis, Myelitis, Aggressive behavior, ... ORPHA:83597
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral hypomyelination, Demyelinating motor neuropathy OMIM:608804
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Aggressive behavior, Irritability, CNS hypomyelination, Severe demyelination of the white matter ORPHA:481152
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... ORPHA:139402
Meningococcal Meningitis
Skin rash, Infectious encephalitis, Irritability ORPHA:33475
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Multiple Sclerosis, Susceptibility To
Depression, CNS demyelination, Emotional lability OMIM:126200
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Cerebral hypomyelination OMIM:612438
Giant Axonal Neuropathy
CNS hypomyelination ORPHA:643
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, CNS hypomyelination OMIM:615966
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, Cerebral hypomyelination, CNS hypomyelination OMIM:614381
Agammaglobulinemia, X-Linked
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Bronchiectasis, Prostatit... OMIM:300755
Leukodystrophy, Hypomyelinating, 10
Leukodystrophy, CNS hypomyelination OMIM:616420
Poliomyelitis
Myelitis, Fatigable weakness of respiratory muscles, Low self esteem, Meningitis, Infectious ence... ORPHA:2912
Tremor-Ataxia-Central Hypomyelination Syndrome
Leukodystrophy, CNS hypomyelination ORPHA:447896
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Whipple Disease
Arthritis, Uveitis, Pericarditis, Myositis, Depression, Infectious encephalitis, Myocarditis ORPHA:3452
Listeriosis
Endocarditis, Septic arthritis, Myocarditis, Brain abscess, Osteomyelitis, Infectious encephaliti... ORPHA:533
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination OMIM:617613
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination OMIM:614482
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619286
Cerebral Visual Impairment
Infectious encephalitis, Unusual CNS infection, Meningitis ORPHA:447788
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination OMIM:618437
Lissencephaly 8
Cerebral hypomyelination OMIM:617255
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination OMIM:618186
Legionnaires Disease
Endocarditis, Hepatitis, Recurrent pharyngitis, Pericarditis, Infectious encephalitis, Myocarditi... ORPHA:549
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
American Trypanosomiasis
Skin rash, Infectious encephalitis, Myocarditis ORPHA:3386
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, CNS hypomyelination OMIM:619260
Avian Influenza
Conjunctivitis, Myelitis, Hepatitis, Meningitis, Infectious encephalitis, Pneumonia ORPHA:454836
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
4H Leukodystrophy
Cerebral hypomyelination ORPHA:289494
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination OMIM:612164
Reynolds Syndrome
Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis ORPHA:779
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia OMIM:615561
Neurodevelopmental Disorder With Language Delay And Seizures
CNS hypomyelination OMIM:619908
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Purulent rhinitis, Arthritis, Meningitis, Oti... OMIM:601457
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Hemophagocytic Lymphohistiocytosis, Familial, 1
Infectious encephalitis, Irritability, Meningitis OMIM:267700
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Leukodystrophy, CNS hypomyelination OMIM:619576
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination OMIM:614922
Microsporidiosis
Lymphadenitis, Endocarditis, Myocarditis, Brain abscess, Osteomyelitis, Rhinitis, Prostatitis, Ke... ORPHA:2552
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination OMIM:618863
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Nocardiosis
Lymphadenitis, Endocarditis, Conjunctivitis, Brain abscess, Osteomyelitis, Severe infection, Scle... ORPHA:31204
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Chilblains, Irritability OMIM:615010
Familial Hemophagocytic Lymphohistiocytosis
Erythroderma, Skin rash, Colitis, Infectious encephalitis, Maculopapular exanthema ORPHA:540
Q Fever
Endocarditis, Myocarditis, Maculopapular exanthema, Osteomyelitis, Hepatitis, Pericarditis, Unusu... ORPHA:781
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, CNS hypomyelination ORPHA:300605
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Self-mutilation, Recurrent infections, CNS hypomyelination OMIM:618922
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination OMIM:616239
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Peroxisomal Acyl-Coa Oxidase Deficiency
Leukodystrophy, Irritability, CNS demyelination OMIM:264470
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia ORPHA:354
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Chronic otitis media OMIM:612949
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Meningitis, Onychomycosis OMIM:212050
Developmental And Epileptic Encephalopathy 29
CNS hypomyelination OMIM:616339
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination ORPHA:280229
Scedosporiosis
Endocarditis, Septic arthritis, Opportunistic fungal infection, Osteomyelitis, Invasive fungal in... ORPHA:449280
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Hepatitis, Sclerosing cholangitis, Stomatitis... OMIM:308230
Zygomycosis
Endocarditis, Brain abscess, Enterocolitis, Invasive fungal infection, Hepatitis, Fasciitis, Peri... ORPHA:73263
Behçet Disease
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Irritability,... ORPHA:117
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Infectious encephalitis, Self-injurious behavior, Depression, Recurrent urinary tract infections ORPHA:847
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, CNS hypomyelination ORPHA:88618
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Delayed myelination OMIM:616683
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, CNS demyelination OMIM:618237
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Inappropriate crying, Cerebral hypomyelination, Esophagitis, Irritability ORPHA:79351
Sandhoff Disease, Infantile Form
CNS hypomyelination ORPHA:309155
Chikungunya
Diminished motivation, Crusting erythematous dermatitis, Enthesitis, Skin rash, Arthritis, Synovi... ORPHA:324625
Japanese Encephalitis
Paucity of anterior horn motor neurons, Infectious encephalitis, Meningitis ORPHA:79139
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral hypomyelination ORPHA:438114
Aicardi-Goutieres Syndrome 5
Leukodystrophy, Chilblains, Irritability OMIM:612952
Alexander Disease
Emotional lability, Infectious encephalitis, Self-injurious behavior, Depression ORPHA:58
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
CNS hypomyelination OMIM:618527
Brucellosis
Sacroiliac arthritis, Septic arthritis, Endocarditis, Myocarditis, Osteomyelitis, Hip osteoarthri... ORPHA:1304
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis, Thyroiditis, Ecze... ORPHA:391487
Gastrointestinal Defects And Immunodeficiency Syndrome 2
CNS hypomyelination, Inflammation of the large intestine, Leukodystrophy, Bronchiectasis OMIM:619708
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Combined Saposin Deficiency
CNS demyelination OMIM:611721
Developmental And Epileptic Encephalopathy 71
CNS demyelination OMIM:618328
Cysticercosis
Infectious encephalitis, Apathy, Emotional lability, Iridocyclitis ORPHA:1560
Immunodeficiency 46
Conjunctivitis, Meningitis, Chronic oral candidiasis, Recurrent sinopulmonary infections OMIM:616740
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination OMIM:617193
Amoebiasis Due To Free-Living Amoebae
Irritability, Unusual skin infection, Pustule, Sinusitis, Infectious encephalitis, Pneumonia ORPHA:68
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... ORPHA:331235
Isolated Agammaglobulinemia
Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recu... ORPHA:229717
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Complement Factor I Deficiency
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... OMIM:610984
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Herpes simplex encephalitis, Acne inversa, Recurrent upper respira... OMIM:233600
Rift Valley Fever
Hepatitis, Skin rash, Severe viral infection, Uveitis, Infectious encephalitis ORPHA:319251
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection ORPHA:464370
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Meningitis, Recur... ORPHA:33110
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Irritability, Leukodystrophy OMIM:300523
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination OMIM:612951
Immunoglobulin A Vasculitis
Skin rash, Arthritis, Pustule, Episcleritis, Infectious encephalitis, Orchitis ORPHA:761
Sandhoff Disease
CNS hypomyelination OMIM:268800
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Depression OMIM:221820
Incontinentia Pigmenti
Skin rash, Infectious encephalitis, Keratitis, Uveitis ORPHA:464
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral hypomyelination, Self-injurious behavior ORPHA:457351
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Emotional lability, Recurrent upper respiratory tra... ORPHA:293987
Pelizaeus-Merzbacher Disease, Classic Form
Cerebral hypomyelination ORPHA:280219
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Trigeminal Neuralgia
CNS demyelination, Episodic paroxysmal anxiety, Peripheral demyelination, Depression ORPHA:221091
Thymic Aplasia
Recurrent candida infections, Opportunistic infection, Invasive fungal infection, Severe infectio... ORPHA:83471
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Pyruvate Carboxylase Deficiency
Apathy, CNS hypomyelination, Delayed myelination ORPHA:3008
Tularemia
Conjunctivitis, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, ... ORPHA:3392
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Skin rash, Recurrent bacterial meningitis, Recurrent pneumonia, Pneumon... OMIM:300400
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Cerebral hypomyelination ORPHA:496641
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination ORPHA:247262
Spinocerebellar Ataxia 23
CNS demyelination OMIM:610245
Leigh Syndrome With Leukodystrophy
Leukodystrophy, Emotional lability ORPHA:255241
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Leukodystrophy, Irritability OMIM:619224
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination OMIM:618688
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, CNS hypomyelination OMIM:615356
Leukodystrophy, Hypomyelinating, 17
Leukodystrophy OMIM:618006
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619306
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy OMIM:618242
Central Precocious Puberty
Meningitis, Acne ORPHA:759
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
2,4-Dienoyl-Coa Reductase Deficiency
Leukodystrophy OMIM:616034
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Cerebral hypomyelination, Recurrent respiratory infections, Hair-pulling, Irritability ORPHA:447997
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Rhinitis, Recurrent bacterial upper respiratory tract infections, Recurrent bacterial meningitis,... ORPHA:70593
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Bronchiectasis, Recurrent Staphylococc... OMIM:615816
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Marchiafava-Bignami Disease
Aggressive behavior, Abnormal emotion/affect behavior, Apathy, CNS demyelination, Depression ORPHA:221074
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination ORPHA:477673
Dpagt1-Cdg
Aggressive behavior, Head-banging, CNS hypomyelination, Emotional blunting ORPHA:86309
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
CNS hypomyelination, Aggressive behavior, Anxiety, Recurrent urinary tract infections ORPHA:268261
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy OMIM:617916
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Irritability ORPHA:401866
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy, Delayed CNS myelination OMIM:617964
Mitochondrial Complex I Deficiency, Nuclear Type 5
Leukodystrophy, Irritability OMIM:618226
Multiple Mitochondrial Dysfunctions Syndrome 3
Leukodystrophy, Irritability OMIM:615330
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
CNS demyelination OMIM:618193
Frontal Encephalocele
Leukodystrophy ORPHA:1931
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous abscess forma... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy OMIM:614932
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination, Depression OMIM:169500
Late-Infantile/Juvenile Krabbe Disease
Abnormal CNS myelination, Irritability, Emotional lability ORPHA:206443
Fusariosis
Onychomycosis, Maculopapular exanthema, Brain abscess, Osteomyelitis, Invasive fungal infection, ... ORPHA:228119
Leigh Syndrome
CNS demyelination, Emotional lability OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy OMIM:618225
Immunodeficiency 68
Lymphadenitis, Septic arthritis, Recurrent meningitis, Recurrent skin infections OMIM:612260
Leukodystrophy, Hypomyelinating, 13
Delayed CNS myelination, Irritability, Leukodystrophy OMIM:616881
Follicular Lymphoma
Meningitis ORPHA:545
Cinca Syndrome
Skin rash, Meningitis, Uveitis, Arthritis OMIM:607115
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Sudanophilic leukodystrophy OMIM:260600
Krabbe Disease
CNS demyelination, Peripheral demyelination OMIM:245200
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Delayed myelination, CNS demyelination OMIM:214150
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination OMIM:619641
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent bacterial infections, Meningitis, Recurrent viral i... ORPHA:169090
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy OMIM:619851
Rat-Bite Fever
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Maculopapular exanthema, Erythema ... ORPHA:31205
Schilder Disease
CNS demyelination ORPHA:59298
Aicardi-Goutieres Syndrome 4
Leukodystrophy OMIM:610333
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Recurrent pharyngitis, Pericarditis, Meningitis, Myocarditis ORPHA:829
Autoinflammation With Infantile Enterocolitis
Skin rash, Enterocolitis, Meningitis OMIM:616050
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy OMIM:612233
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, CNS demyelination OMIM:619653
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Skin rash, Inflammatory abnormality of the eye, Arthritis, Uveitis, Recurrent bac... ORPHA:36412
Waardenburg Syndrome, Type 4A
Leukodystrophy OMIM:277580
Pyruvate Carboxylase Deficiency
Leukodystrophy OMIM:266150
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Leukodystrophy, Synovitis, Recurrent otitis media, CNS hypomy... ORPHA:3455
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Meningitis ORPHA:217260
Peroxisome Biogenesis Disorder 8B
Leukodystrophy, Peripheral demyelination OMIM:614877
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Osteomyelitis, Recurrent respiratory infections, Crusting erythemat... ORPHA:37042
Angiostrongyliasis
Unusual CNS infection, Irritability, Meningitis ORPHA:74
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Leukodystrophy, Aspiration pneumonia, Pancreatitis ORPHA:431361
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Recurrent aspiration pneumonia, Leukodystrophy, Recurrent gastroenterit... ORPHA:79124
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Self-injurious behavior ORPHA:494344
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Chronic Granulomatous Disease
Inflammatory abnormality of the eye, Eczema, Meningitis, Sinusitis, Otitis media, Recurrent respi... ORPHA:379
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cerebral hypomyelination, Recurrent otitis media ORPHA:513456
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Cholecystitis, Emotional lability ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Cholecystitis, Emotional lability ORPHA:309263
Cinca Syndrome
Inflammatory abnormality of the eye, Meningitis, Uveitis, Retrobulbar optic neuritis ORPHA:1451
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy OMIM:616140
Arachnoiditis
Meningitis ORPHA:137817
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Recurrent lower respiratory tract infections, CNS hypomyelination OMIM:619534
Mixed Connective Tissue Disease
Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Meningitis, ... ORPHA:809
Isolated Sedoheptulokinase Deficiency
Hepatitis, Abnormal CNS myelination ORPHA:440713
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Leukodystrophy OMIM:619051
Orofaciodigital Syndrome Xiv
CNS hypomyelination OMIM:615948
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Aicardi-Goutieres Syndrome 1
Chilblains, CNS demyelination, Self-mutilation OMIM:225750
Leukodystrophy, Progressive, Early Childhood-Onset
Leukodystrophy OMIM:617762
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Leukodystrophy, Cholecystitis, Depression ORPHA:309271
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy OMIM:614299
Secondary Syringomyelia
Fatigable weakness, CNS demyelination ORPHA:99857
Tick-Borne Encephalitis
Myelitis, Fatigable weakness of respiratory muscles, Unusual CNS infection, Meningitis, Depression ORPHA:297
Canavan Disease
CNS demyelination OMIM:271900
Whim Syndrome
Lymphadenitis, Bronchiectasis, Severe periodontitis, Recurrent pneumonia, Recurrent bacterial inf... ORPHA:51636
Coccidioidomycosis
Invasive fungal infection, Osteomyelitis, Folliculitis, Erythema nodosum, Skin rash, Unusual CNS ... ORPHA:228123
Giant Cell Arteritis
Arthritis, Recurrent pharyngitis, Pericarditis, Meningitis, Depression ORPHA:397
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Leukodystrophy, Delayed CNS myelination, Recurrent infections OMIM:615471
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Hurler Syndrome
Abnormal CNS myelination, Recurrent respiratory infections, Recurrent otitis media OMIM:607014
Niemann-Pick Disease Type C
Aggressive behavior, Aspiration pneumonia, Demyelinating peripheral neuropathy, Leukodystrophy, B... ORPHA:646
Leukocyte Adhesion Deficiency
Perianal abscess, Bronchiectasis, Recurrent staphylococcal infections, Glomerulonephritis, Mening... ORPHA:2968
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Meningitis, Pneumonia, Recu... OMIM:600802
Kawasaki Disease
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Irritability, Recurrent pharyngitis, Pericarditi... ORPHA:2331
Alg8-Cdg
Leukodystrophy ORPHA:79325
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Self-injurious behavior, Leukodystrophy, Recurrent otitis media, Recurrent respirat... OMIM:619575
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Hyperglycinemia, Lactic Acidosis, And Seizures
Leukodystrophy OMIM:614462
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Anxiety, Chronic active hepatitis, Erythema nodosum, Arthritis, Thy... ORPHA:289390
Trichinellosis
Conjunctivitis, Skin rash, Apathy, Meningitis, Irritability ORPHA:863
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Inflammation of the large intestine, Colonic eosinophilia, Recurrent pneumonia, Mening... OMIM:617718
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination OMIM:614886
Peroxisome Biogenesis Disorder 6B
Leukodystrophy OMIM:614871
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Meningitis, Orchitis, Peritonitis OMIM:249100
Familial Mediterranean Fever
Skin rash, Arthritis, Erysipelas, Pericarditis, Meningitis, Orchitis, Peritonitis, Pancreatitis, ... ORPHA:342
Plague
Lymphadenitis, Endocarditis, Enterocolitis, Erythema nodosum, Skin rash, Inflammatory abnormality... ORPHA:707
Sepsis In Premature Infants
Enterocolitis, Meningitis, Severe infection, Disseminated viral infection ORPHA:90051
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination OMIM:610651
Glycogen Storage Disease Ii
Abnormal CNS myelination, Recurrent respiratory infections OMIM:232300
Acute Transverse Myelitis
Extrapulmonary tuberculosis, Invasive parasitic infection, CNS demyelination, Severe viral infect... ORPHA:139417
Leigh Syndrome
Leukodystrophy, Severe viral infection, Eczema ORPHA:506
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Recurrent ear infections, Aggressive behavior, Osteomyelitis, Delayed myelination, Suicidal ideat... OMIM:619475
Wiskott-Aldrich Syndrome
Conjunctivitis, Arthritis, Eczema, Inflammation of the large intestine, Meningitis, Sinusitis, Ot... ORPHA:906
Leigh Syndrome With Cardiomyopathy
Leukodystrophy ORPHA:70474
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
X-Linked Cerebral Adrenoleukodystrophy
CNS demyelination, Diffuse demyelination of the cerebral white matter ORPHA:139396
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, Increased inflammatory... ORPHA:900
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Myocarditis, Brain abscess, Severe infection, Severe viral infection, Meningiti... ORPHA:544482
Aicardi-Goutières Syndrome
Demyelinating peripheral neuropathy, Arthritis, Chilblains, Leukodystrophy, Myositis, Panniculiti... ORPHA:51
Cerebrotendinous Xanthomatosis
Aggressive behavior, Suicidal ideation, CNS demyelination, Hypermyelinated retinal nerve fibers, ... ORPHA:909
Autosomal Dominant Cerebellar Ataxia
CNS demyelination ORPHA:99
Bickerstaff Brainstem Encephalitis
Acute demyelinating polyneuropathy, Severe infection, CNS demyelination, Recurrent gastroenteriti... ORPHA:79138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
De Sanctis-Cacchione Syndrome
Conjunctivitis, Keratitis, Leukodystrophy OMIM:278800
Cryptococcosis
Osteomyelitis, Prostatitis, Meningitis, Peritonitis, Pneumonia ORPHA:1546
Wiskott-Aldrich Syndrome
Recurrent meningitis, Ulcerative colitis, Recurrent otitis media, Eczema, Recurrent sinusitis, In... OMIM:301000
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Prostatitis, Inflammatory abnormality of the skin, I... ORPHA:449395
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
Rabson-Mendenhall Syndrome
CNS demyelination, Recurrent infections ORPHA:769
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukodystrophy OMIM:612199
Isolated Complex I Deficiency
Leukodystrophy ORPHA:2609
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
CNS demyelination OMIM:620024
Hydranencephaly
Meningitis ORPHA:2177
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukodystrophy OMIM:252010
Kikuchi-Fujimoto Disease
Malar rash, Skin rash, Pustule, Meningitis, Myocarditis ORPHA:50918
Leptospirosis
Hepatitis, Skin rash, Uveitis, Pericarditis, Optic neuritis, Meningitis ORPHA:509
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination OMIM:220111

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 Bcas1

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 Bcas1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BCAS1 expression defines a population of early myelinating oligodendrocytes in multiple sclerosis lesions. Science translational medicine (December 2017) Bcas1tm1c(EUCOMM)Wtsi Bcas1tm1a(EUCOMM)Wtsi Bcas1tm1d(EUCOMM)Wtsi 29212715

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MGI Allele Allele Type Produced
Bcas1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bcas1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bcas1em1(IMPC)Tcp Indel Mice, Tissue

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