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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Short nose, Downturned corners of mouth, Smooth philtrum, Facial palsy, Micrognathia, Anteverted ... 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, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Facial diplegia, Paralysis, Cerebellar atrophy, Knee flexion ... OMIM:616286
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Distal amyotrophy, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Laryngeal stridor, Progressive cerebellar ataxia, Cerebellar atrophy, Dis... OMIM:606183
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Contractures of the joints of the lower limbs, Paralysis, Skeletal ... OMIM:613710
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis OMIM:608634
Pleoconial Myopathy With Salt Craving
Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Lower limb muscle weakness, Aspiration pneumoni... ORPHA:90117
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Flexion contracture, Decreased num... OMIM:607706
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand muscle weakness, Hand tremor, Hydrocephalus, Flexion contracture, Quadricep... ORPHA:99947
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Vocal cord paresis, Abnormality of masseter muscle, Difficulty... ORPHA:98897
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Periodic hypokalemic... ORPHA:681
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Flexion contracture, Hypodontia, Skeletal muscle atrophy, Upper motor neuron dysfu... OMIM:612079
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Machado-Joseph Disease Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram... ORPHA:276244
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Scapular winging, Short mandibular rami, Bulbous nose, Periodic h... OMIM:170390
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Amyotrophic Lateral Sclerosis
Laryngospasm, Amyotrophic lateral sclerosis, Paralysis, Xerostomia, Motor neuron atrophy, Skeleta... ORPHA:803
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Knee clonus, Ataxia, Ankle clonus, Hand muscle atrophy, Abnormal cerebellum morpholog... OMIM:211530
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Paralysis, Respiratory paralysis, Muscle fiber necrosis, ... ORPHA:449285
Machado-Joseph Disease Type 1
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram... ORPHA:276241
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Japanese Encephalitis
Pill-rolling tremor, Abnormal midbrain morphology, Abnormality of extrapyramidal motor function, ... ORPHA:79139
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Tracheomalacia, Decreased number of peripheral myelinated nerve fibers, Vo... OMIM:615490
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities, Carious teeth, Tremor, Narrow palate, Narrow mouth, Thick lower lip... ORPHA:457365
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop... OMIM:253310
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Tick-Borne Encephalitis
Abnormal brainstem MRI signal intensity, Tremor, Incoordination, Abnormal cranial nerve morpholog... ORPHA:297
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Hypertonia, Flexion contracture, Periodic hyperkalemic paralysis, De... ORPHA:682
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Distal upper limb amyotrophy, Amyotro... ORPHA:600
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Variegate Porphyria
Paralysis OMIM:176200
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Crisponi/Cold-Induced Sweating Syndrome 1
Long philtrum, Carious teeth, Narrow mouth, Micrognathia, Camptodactyly, Trismus, Opisthotonus, F... OMIM:272430
Poliomyelitis
Abnormal motor nerve conduction velocity, Paraparesis, Hyperkinetic movements, Lower limb muscle ... ORPHA:2912
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Leg muscle stiffness, Paraparesis, Hemiparesis, Paralysis, Progressiv... ORPHA:43
Arnold-Chiari Malformation Type I
Gait ataxia, Brain stem compression, Arnold-Chiari type I malformation, Cranial nerve compression... ORPHA:268882
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy, Periodic hypokalemic paresis ORPHA:684
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Vocal cord paresis, Distal amyotrophy, Axonal degenera... OMIM:601152
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Persistence of primary teeth, Facial paralysis, Cranial ner... OMIM:259710
Charcot-Marie-Tooth Disease Type 4C
Hand muscle atrophy, Vocal cord paralysis, Difficulty in tongue movements, Abnormal motor nerve c... ORPHA:99949
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition, Periodic paralysis ORPHA:757
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Vocal cord paresis, Hand muscle atrophy, Distal amyotrophy, Foot ... OMIM:606071
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Death in infancy, Head titubation, Cerebellar at... OMIM:301790
Normokalemic Periodic Paralysis
Abnormality of the tongue, Periodic paralysis OMIM:170600
Paragangliomas 2
Vagal paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus jugular tumor, Glomus tympanicum ... OMIM:601650
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Vocal cord paralysis, Abnormal skeletal muscle morphology, Neoplasm of ... ORPHA:142
Glossopharyngeal Neuralgia
Tongue pain, Mandibular pain, Abnormal palate morphology, Arnold-Chiari type I malformation, Cran... ORPHA:221098
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Increased intramyocellular lipid droplets, Periodic hyp... ORPHA:79102
Ichthyosis, Congenital, Autosomal Recessive 2
Everted lower lip vermilion, Paralysis OMIM:242100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Myoclonus, Paralysis ORPHA:83601
Usher Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Aplasia/Hypoplasia... ORPHA:886
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormality of facial skelet... ORPHA:548
Foodborne Botulism
Xerostomia, Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:228371
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:230800
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle... OMIM:272750
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Ataxia OMIM:263800
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Increased cup-to-disc ratio, Vocal cord paralysis, Myoclonus, Optic atrop... ORPHA:500144
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Bronchiectasis ORPHA:2375
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Paraganglioma, Vocal cord paralysis, Paraganglioma of head and... ORPHA:94080
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Flexion contracture of thumb, Narrow mouth, Joint contracture of... ORPHA:324540
Schinzel-Giedion Syndrome
Camptodactyly, Hypertonia, Vocal cord paralysis, High palate, Micrognathia, Spasticity, Macroglos... ORPHA:798
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Ataxia, Cerebellar atrophy, Myoclonus OMIM:203700
Inhalational Botulism
Xerostomia, Paralysis ORPHA:254504
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Glioblastoma
Paralysis ORPHA:360
Camurati-Engelmann Disease
Carious teeth, Mandibular prognathia, Cranial nerve compression, Optic nerve compression, Skeleta... OMIM:131300
Renal Tubular Acidosis, Distal, 1
Periodic hypokalemic paresis, Periodic paralysis OMIM:179800
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Smooth philtrum, Facial palsy, Micrognathia, Anteverted ... OMIM:614744
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Glom... OMIM:605373
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Craniofacial hyperostosis, Hypertonia, Hemiparesis, Paralysis, Tetraplegia, Rigidity,... ORPHA:2396
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Vocal... ORPHA:276621
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Cerebellar hypoplasia, Pulmonary artery stenosis, Spina bifida o... OMIM:301030
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Pulmonary fibrosis, Limb ataxia, Hypertonia, Oculomotor apraxia, Papilledema,... ORPHA:2072
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Gitelman Syndrome
Rhabdomyolysis, Paralysis ORPHA:358
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Feingold Syndrome 1
Everted lower lip vermilion, Thick vermilion border, Wide nasal bridge, Vocal cord paralysis, Hig... OMIM:164280
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Vocal... ORPHA:29072
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Williams-Beuren Syndrome
Long philtrum, Incoordination, Short nose, Open mouth, Flexion contracture, Peripheral pulmonary ... OMIM:194050
African Trypanosomiasis
Tremor, Papilledema, Hemiparesis, Paralysis, Involuntary movements, Fasciculations, Choreoathetos... ORPHA:3385
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347

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
Hoxb1tm119038(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) Targeting vectors
Hoxb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxb1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxb1tm119038(L1L2_gt1_Del_LacZ) Targeting vectors

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