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Gene: Foxb1 MGI:1927549

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box B1
Synonyms:
TWH,  C43,  Fkh5,  Mf3,  Hfh-e5.1,  Foxb1a,  Foxb1b

Order Alleles

IMPC Data Collections

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

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.

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 Foxb1 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 Foxb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
Substantia nigra gliosis OMIM:125320
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, O... OMIM:614963
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Cognitive impairment ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Dementia, Thalamic calcification, Cognitive impairment OMIM:615483
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Anterior hypopituitarism, Abnormal midbrain morph... ORPHA:280195
Joubert Syndrome 10
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Duplication Of The Pituitary Gland
Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth... ORPHA:314621
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Thalamic calcification OMIM:618317
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Meckel Syndrome 13
Molar tooth sign on MRI OMIM:617562
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Thalamic calcification OMIM:618824
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Failure to thrive, Decreased thalamic volume OMIM:613668
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume, Cerebellar hypoplasia OMIM:619072
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... OMIM:615440
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... OMIM:617622
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... ORPHA:54595
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Short stature, Abnormal brainstem m... ORPHA:1532
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, T2 hypointense thalamus, Dementia OMIM:618193
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis OMIM:620241
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Large for gestational age OMIM:617757
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Abnormal brai... ORPHA:467166
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Central Precocious Puberty In Male
Pituitary microadenoma, Attention deficit hyperactivity disorder, Hypothalamic hamartoma ORPHA:649929
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:615665
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Attention deficit hyperactivity disorder OMIM:618929
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Mental deterioration, Dementia, Hypothalamic atrophy, Memory impairment ORPHA:2822
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Alexander Disease Type I
Cerebellar atrophy, Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Small for gestational age, Growth delay, Focal T2 hyperintense thalamic les... OMIM:619057
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft OMIM:617542
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... ORPHA:101070
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short stature, Decreased response to g... OMIM:619476
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Failure to thrive, Abnormal brainstem morphology ORPHA:255182
Joubert Syndrome 18
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:614815
Slc35A2-Cdg
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Failure to thrive in infancy, At... ORPHA:356961
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neurodevelopmental Disorder With Language Delay And Seizures
Attention deficit hyperactivity disorder, Hypothalamic hamartoma OMIM:619908
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Joubert Syndrome 6
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... OMIM:610688
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature, Obesity OMIM:619185
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Coach Syndrome 2
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619111
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Motor deterioration, Cognitive impairment, Dementia ORPHA:1947
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... ORPHA:370959
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Cach Syndrome
Cerebellar atrophy, T2 hypointense thalamus, Growth delay, Abnormal pons morphology, Atrophy/Dege... ORPHA:135
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Progressive neurologic deterioration ORPHA:254881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:615181
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysp... OMIM:613155
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis, Dandy-Wa... OMIM:611134
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Postnatal growth retardation, Delayed early-childhood social milest... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the br... OMIM:613153
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... ORPHA:444072
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Dementia, Progressive language deterioration, Cognitive im... ORPHA:79264
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Cerebellar vermis hypoplasia, Short stature, Rhizomelic leg shortening, Abnorm... ORPHA:397715
Joubert Syndrome 2
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... OMIM:608091
47,Xyy Syndrome
Increased circulating gonadotropin level, Abnormal brainstem morphology, Impaired social interact... ORPHA:8
Joubert Syndrome 14
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brai... OMIM:614424
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior ORPHA:391417
Pallister-Hall-Like Syndrome
Chiari type I malformation, Anterior hypopituitarism, Short stature, Hypothalamic hamartoma OMIM:241800
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology ORPHA:88619
New-Onset Refractory Status Epilepticus
Confusion, Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:363558
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Short stature, Growth delay, Hypothalamic hamartoma, Molar tooth si... ORPHA:2754
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Short stature, Abnormal br... ORPHA:2720
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy OMIM:207950
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Abnormality of the diencep... ORPHA:2570
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity ORPHA:444002
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Foc... ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:444013
Joubert Syndrome 39
Molar tooth sign on MRI, Overweight, Cerebellar vermis hypoplasia OMIM:619562
Coach Syndrome 1
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the ce... OMIM:216360
Neuroferritinopathy
T2 hypointense thalamus, Subcortical dementia, Abnormal thalamic MRI signal intensity, Frontal lo... ORPHA:157846
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... ORPHA:163961
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Joubert Syndrome 1
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of t... OMIM:213300
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Short stature, Hypothalamic hamartoma, Molar tooth sign on MRI, Fai... OMIM:277170
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:70595
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI, Small pituitary gland, Disproportio... OMIM:619479
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:254930
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2318
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Abnormal midbrain morpholog... ORPHA:293987
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:220497
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:404440
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Impaired social interactions, Hypothalamic hamartoma OMIM:619775
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Cerebellar atrophy, Abnormal thalamic MRI signal intensity ORPHA:485421
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Short stature ORPHA:557003
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:220493
Rhombencephalosynapsis
Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Agenesis of cerebella... ORPHA:59315
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:435638
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Leigh Syndrome
Cerebellar atrophy, Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesi... ORPHA:506
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Cerebellar hypoplasia OMIM:616202
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:616300
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Focal T2 hyperintense thalamic lesion OMIM:619046
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Lamb-Shaffer Syndrome
Abnormal social behavior, Mild postnatal growth retardation ORPHA:530983
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology, Abnormal thalamic MRI si... ORPHA:83597
Wildervanck Syndrome
Meningocele ORPHA:3456
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Cognitive impairment ORPHA:2959
Crome Syndrome
Short stature, Cerebellar dysplasia OMIM:218900
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Joubert Syndrome 5
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... OMIM:610188
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Aceruloplasminemia
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:48818
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia OMIM:616546
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Meningioma
Enlarged pituitary gland, Hypothalamic hypothyroidism, Reduced circulating prolactin concentratio... ORPHA:2495
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Tay-Sachs Disease
Memory impairment, Abnormal thalamic MRI signal intensity, Short attention span ORPHA:845
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Meckel Syndrome, Type 1
Dilated fourth ventricle, Chiari malformation, Cerebellar hypoplasia, Molar tooth sign on MRI, In... OMIM:249000
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Dandy-Walker malforma... ORPHA:434179
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Acromelic Frontonasal Dysplasia
Encephalocele, Hypopituitarism, Meningocele ORPHA:1827
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Abnormal brainstem morphology, Birth length less than 3rd percentile, ... ORPHA:464311
Fg Syndrome Type 1
Abnormal social behavior, Short stature, Slender build ORPHA:93932
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Wilson Disease
Face of the giant panda sign OMIM:277900
Pallister-Hall Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Neo... OMIM:146510
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
48,Xxxy Syndrome
Abnormal social behavior, Obesity ORPHA:96263
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Short stature, Decreased thalamic volume ORPHA:168577
Microphthalmia, Syndromic 3
Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Bickerstaff Brainstem Encephalitis
Confusion, Abnormal thalamic MRI signal intensity ORPHA:79138
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dandy-Walker malfor... OMIM:615948
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Phakomatosis Pigmentokeratotica
Spina bifida, Hyperhidrosis ORPHA:2874
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida, Opisthotonus ORPHA:2671
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Prader-Willi Syndrome Due To Translocation
Short stature, Obesity, Impaired social interactions, Intrauterine growth retardation, Abnormal s... ORPHA:177907
Pallister-Hall Syndrome
Short stature, Large for gestational age, Adrenocorticotropic hormone deficiency, Gonadotropin de... ORPHA:672
Orofaciodigital Syndrome I
Short stature, Hypothalamic hamartoma, Cerebellar cyst OMIM:311200
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... ORPHA:93924
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Hallermann-Streiff Syndrome
Choreoathetosis, Spina bifida OMIM:234100
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Holoprosencephaly 7
Fusion of the left and right thalami, Hypoplasia of the brainstem, Panhypopituitarism OMIM:610828
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Nail-Patella Syndrome
Spina bifida OMIM:161200
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Postnatal growth retardation, Inappropriate laughter, Abnormal social ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Postnatal growth retardation, Inappropriate laughter, Abnormal social ... ORPHA:363958
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Mend Syndrome
Failure to thrive, Abnormal social behavior, Short stature ORPHA:401973
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Fibular Hemimelia
Spina bifida ORPHA:93323
Williams Syndrome
Short stature, Failure to thrive in infancy, Abnormality of the diencephalon, Obesity, Chiari mal... ORPHA:904
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomen... ORPHA:567
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Norrie Disease
Failure to thrive, Cachexia, Delayed puberty, Aplasia/Hypoplasia of the cerebellum, Abnormality o... ORPHA:649
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydranencephaly, ... OMIM:256520
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Exocrine pancreatic insufficiency ORPHA:508498
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida OMIM:619480
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2308
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Fanconi Anemia
Umbilical hernia, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:84
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Aicardi Syndrome
Spina bifida OMIM:304050
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Marfan Syndrome
Meningocele ORPHA:558
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation OMIM:192350
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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 Foxb1

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 Foxb1.

No publications found that use IMPC mice or data for Foxb1.

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
Foxb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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