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Gene: Barhl1 MGI:1859288

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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:
BarH like homeobox 1
Synonyms:
Dres115,  MBH2

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 Barhl1 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 Barhl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... ORPHA:52368
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Brain atrophy, Cerebral cortical atroph... OMIM:620327
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Cerebral cortical atrophy OMIM:618201
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, Cerebral cortical atrophy, EEG wi... OMIM:617864
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia OMIM:272750
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Macrotia, Abnormality of peripheral n... ORPHA:90321
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Asparagine Synthetase Deficiency
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst sup... OMIM:615574
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic... ORPHA:909
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Laryngeal dyst... ORPHA:845
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing... ORPHA:79255
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation OMIM:618056
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy ORPHA:309155
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Cerebral cor... OMIM:617527
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213

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 Barhl1

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 Barhl1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Barhl1tm1(EGFP_CreERT2)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Barhl1tm1(EGFP_CreERT2)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Barhl1tm1(EGFP_CreERT2)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Barhl1tm1(EGFP_CreERT2)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Barhl1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Barhl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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