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Gene: Hoxb1 MGI:96182

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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:
homeobox B1
Synonyms:
Hox-2.9

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 Hoxb1 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 Hoxb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Facial Paresis, Hereditary Congenital, 3
Downturned corners of mouth, Micrognathia, Tented upper lip vermilion, Open mouth, Short philtrum... OMIM:614744

The table below shows human diseases predicted to be associated to Hoxb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Micrognathia, Facial diplegia, Knee flexion contract... OMIM:616286
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Death in infancy, Peripheral hypomyelination, Neonatal death,... OMIM:616287
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Per... OMIM:605285
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Peripheral axonal neuropathy OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Lower cranial nerve dysfunction, Limb fas... ORPHA:90117
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Vocal cord paralys... OMIM:162500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Quadriceps muscle weakness, Hand tremor, Hand muscle we... ORPHA:99947
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased intramyocellular lipid ... ORPHA:681
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Skeletal muscle atrophy, Basal lamina onion bulb formation... OMIM:614895
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Vocal cord pare... ORPHA:101097
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... OMIM:616165
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Denervation of the diaphrag... ORPHA:99948
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Oculopharyngodistal Myopathy
High, narrow palate, Vocal cord paresis, Proximal muscle weakness in upper limbs, Paraplegia, Dis... ORPHA:98897
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Machado-Joseph Disease Type 3
Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower l... ORPHA:276244
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death OMIM:257100
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Spasticity, Cerebellar atrophy, Retrognathia, Decreased motor nerve conduction vel... OMIM:618186
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Machado-Joseph Disease Type 1
Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower l... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower l... ORPHA:276241
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Abnormal cerebellum morphology, Death in childhoo... OMIM:211530
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Cranial nerve paralysis ORPHA:640
Snakebite Envenomation
Gingival bleeding, Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Musc... ORPHA:449285
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Knee flexion contracture, Decre... OMIM:615490
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Japanese Encephalitis
Abnormal midbrain morphology, Skeletal muscle atrophy, Pill-rolling tremor, Decreased motor nerve... ORPHA:79139
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Motheaten musc... OMIM:226670
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Micrognathia, Neonatal death, Paucity of ... OMIM:253310
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Ocul... OMIM:606071
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Death i... ORPHA:682
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Periodic hypokalemic paresis, Delayed eruption of per... OMIM:170390
Arnold-Chiari Malformation Type I
Myelopathy, Brain stem compression, Cranial nerve compression, Abnormality of the vestibulocochle... ORPHA:268882
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Tick-Borne Encephalitis
Tongue fasciculations, Abnormal medulla oblongata morphology, Skeletal muscle atrophy, Incoordina... ORPHA:297
Variegate Porphyria
Paralysis OMIM:176200
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P... ORPHA:43
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Poliomyelitis
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... ORPHA:2912
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Cranial nerve paralysis, Glomus jugular ... OMIM:601650
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Myasthenic Syndrome, Congenital, 16
High palate, Periodic paralysis OMIM:614198
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Vocal cord paresis, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:601152
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Optic atrophy, ... ORPHA:99956
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Rhabdomyolysis OMIM:188580
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Distal amyotrophy, Cerebellar atrophy, Facial paralysi... ORPHA:99949
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Carious teeth, Facial paralysis, Mandibular osteomyelitis, Cranial nerve compressi... OMIM:259710
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology, Anterior open-bite malocclusion ORPHA:83601
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Periodic hypokalemic pa... ORPHA:37553
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cranial nerve paralysis, Cerebral palsy ORPHA:230800
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition, Periodic paralysis ORPHA:757
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Lower limb muscle weakness, Rhabdomyolysis, Tremor, Respiratory par... ORPHA:79102
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cranial nerve paralysis, Cerebral palsy ORPHA:228371
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal palate morphology, Abnormal glossopharyngeal nerv... ORPHA:221098
Leprosy
Enlarged peripheral nerve, Abnormal facial skeleton morphology, Skeletal muscle atrophy, Foot dor... ORPHA:548
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa... OMIM:168000
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Hypoplasia of the pons, Myoclonus, Vocal cord paralysis, Increased cup... ORPHA:500144
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Everted lower lip vermilion OMIM:242100
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis, Glomus jugular tumor... OMIM:605373
Inhalational Botulism
Paralysis, Cranial nerve paralysis ORPHA:254504
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Ataxia OMIM:263800
Non-Functioning Paraganglioma
Cranial nerve compression, Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Paragang... ORPHA:94080
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Facial Paresis, Hereditary Congenital, 3
Downturned corners of mouth, Micrognathia, Tented upper lip vermilion, Open mouth, Short philtrum... OMIM:614744
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Glioblastoma
Paralysis ORPHA:360
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Widely spaced teeth, Unilateral vocal cord paralysis, Narrow mouth, Joint contract... ORPHA:324540
Rift Valley Fever
Gingival bleeding, Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Miscarriage ORPHA:319251
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Abnormality of the dentition, Craniofacial hyperostosis, Optic at... ORPHA:581
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Schinzel-Giedion Syndrome
Spasticity, Retrognathia, Delayed eruption of teeth, Micrognathia, Chiari type I malformation, Sh... ORPHA:798
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia,... ORPHA:2396
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Hype... OMIM:617799
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia OMIM:203700
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis,... ORPHA:276621
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Dental malocclusion, Periodic hypokalemic paresis OMIM:259730
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Gitelman Syndrome
Paralysis, Rhabdomyolysis ORPHA:358
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Cleft lip, Retrognathia, Median pseudocleft lip, Abnormality of coordi... OMIM:616462
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis,... ORPHA:29072
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Papilledema, Hydrocephalus, Hyper... ORPHA:2072
African Trypanosomiasis
Involuntary movements, Myelopathy, Fasciculations, Abnormal central motor function, Tremor, Hemip... ORPHA:3385
Van Esch-O'Driscoll Syndrome
Bifid uvula, Spasticity, Cerebellar atrophy, Downturned corners of mouth, Retrognathia, Unilatera... OMIM:301030
Degcags Syndrome
Retrognathia, Long philtrum, Micrognathia, Protruding tongue, Smooth philtrum, Vocal cord paralys... OMIM:619488
Tsh-Secreting Pituitary Adenoma
Fourth cranial nerve palsy, Periodic hypokalemic paresis, Oculomotor nerve palsy, Abducens palsy,... ORPHA:91347
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Williams-Beuren Syndrome
Dental malocclusion, Long philtrum, Thick lower lip vermilion, Incoordination, Open mouth, Malar ... OMIM:194050
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Feingold Syndrome 1
Micrognathia, Vocal cord paralysis, Everted lower lip vermilion, Thick vermilion border, High palate OMIM:164280
Igg4-Related Thyroid Disease
Sialadenitis, Vocal cord paralysis ORPHA:64744
Tyrosinemia, Type I
Periodic paralysis OMIM:276700

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 Hoxb1

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 Hoxb1.

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

Title Journal IMPC Allele PubMed ID
A calcineurin-Hoxb13 axis regulates growth mode of mammalian cardiomyocytes. Nature (April 2020) Hoxb13tm1a(KOMP)Wtsi 32499640

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MGI Allele Allele Type Produced
Hoxb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxb1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Hoxb1tm119038(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxb1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxb1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hoxb1tm119038(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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