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 2
Synonyms:
MBH1,  E130309B19Rik

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 Barhl2 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 Barhl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Impaired vibration sensation in the lower limbs OMIM:165199
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy OMIM:311050
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Retinal degeneration, Optic atrophy OMIM:614322
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... OMIM:618195
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Short stature, Bone spicule pigmentati... OMIM:618889
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Failure to thrive OMIM:271930
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Optic Atrophy With Demyelinating Disease Of Cns
Peripheral demyelination, Optic atrophy, Ataxia, Optic neuritis OMIM:165200
Neurodegeneration With Brain Iron Accumulation
Chorea, Optic atrophy, Retinopathy ORPHA:385
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Optic atrophy, Coloboma, Failure to thrive OMIM:274270
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Ataxia, Absent brainst... ORPHA:1215
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Leukoencephalopathy With Ataxia
Abnormal chorioretinal morphology, Limb ataxia, Gait ataxia, Optic neuropathy OMIM:615651
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Optic atrop... OMIM:616648
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Distal sensory impairment, Axon... OMIM:601152
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Abnormality of retinal pigmentation, Ataxia, Dysmetria, Abnormality of visual... ORPHA:96
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Coloboma, Retinal detachment OMIM:615113
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Optic atrophy, Choreoathetosis, Ab... ORPHA:702
Joubert Syndrome 22
Retinal dysplasia, Coloboma, Intrauterine growth retardation OMIM:615665
Friedreich Ataxia
Gait ataxia, Decreased amplitude of sensory action potentials, Impaired vibratory sensation, Decr... OMIM:229300
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Ataxia, Retinal degeneration OMIM:214980
Krabbe Disease
Decreased nerve conduction velocity, Failure to thrive, Peripheral demyelination, Optic atrophy, ... OMIM:245200
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Failure to thrive ORPHA:2971
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Abnormality of visual evo... OMIM:601455
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Mitochondrial Complex I Deficiency, Nuclear Type 28
Failure to thrive, Optic atrophy, Choreoathetosis, Optic neuropathy OMIM:618249
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Chorea, Abnormal nerve conduction velocity, Progressive cerebellar ataxia, Dy... ORPHA:98755
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Ataxia, Optic neuropathy, Leber optic atrophy, Optic ... OMIM:535000
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Ataxia, Decreased nerve conduction velocity OMIM:256600
Oculocutaneous Albinism Type 1
Abnormal morphology of the choroidal vasculature, Depigmented fundus, Optic nerve misrouting, Hyp... ORPHA:352731
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Short stature, Mot... OMIM:231550
Srd5A3-Cdg
Coloboma, Optic disc hypoplasia, Ataxia, Optic atrophy, Rod-cone dystrophy ORPHA:324737
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, Macular coloboma, Short stature, Intrau... ORPHA:423479
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Iris coloboma, Coloboma, Short stature ORPHA:921
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Somatic sensory dysfunction, Abnormal auditory evoked potentials, Abnormality of visual e... ORPHA:320401
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Xq12-Q13.3 Duplication Syndrome
Short stature, Abnormality of visual evoked potentials, Optic disc pallor, Impaired pain sensation ORPHA:314389
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Short stature, Decreased nerve conduction velocity, Abnormality of visual evoke... ORPHA:1933
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Ataxia, Progressive ce... ORPHA:101
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Delayed puberty, Short stature, Intrauteri... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment OMIM:613153
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Abnormal autonomic nervous system physiology, Ataxia, Peripheral axonal ... ORPHA:35069
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked po... ORPHA:485421
White-Sutton Syndrome
Rod-cone dystrophy, Iris coloboma, Short stature, Optic atrophy, Abnormality of visual evoked pot... OMIM:616364
Renal Coloboma Syndrome
Retinal coloboma, Optic nerve dysplasia, Optic disc coloboma ORPHA:1475
Oculoauricular Syndrome
Macular hypoplasia, Rod-cone dystrophy, Coloboma OMIM:612109
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Coach Syndrome 2
Chorioretinal coloboma, Coloboma OMIM:619111
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Increased cup... ORPHA:98977
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Abnormality of visual evoked potentials, At... ORPHA:168491
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnorma... ORPHA:309256
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Coloboma, Short stature, Retinal dystrophy OMIM:610125
Joubert Syndrome 14
Morning glory anomaly, Growth delay, Coloboma, Ataxia OMIM:614424
Peho Syndrome
Peripheral dysmyelination, Undetectable visual evoked potentials, Optic atrophy OMIM:260565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia OMIM:615287
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormality of visual evoked potentials, Abno... ORPHA:52368
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Abnormality of visual evoked potentials,... ORPHA:79431
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, Gait ataxia, Optic disc pallor, Ataxia ORPHA:1947
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve ... ORPHA:309263
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Ectopia lentis OMIM:617319
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hyperesthesia, Cachexia, Decreased nerve conducti... ORPHA:206436
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Autosomal Dominant Keratitis
Macular hypoplasia, Aniridia, Hypoplasia of the fovea, Coloboma ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Retinopathy, Axonal degeneration, Optic neuropathy OMIM:616811
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:480898
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy, Postnatal growth retardation OMIM:614225
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormality of visual evoked potentials, Short stature ORPHA:1389
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Ataxia, Retinal degeneration, Abnormality of pattern visual ... ORPHA:2822
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Progressive gait ataxia, Chorea, Decreased ... ORPHA:309271
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Impaired tactile sensation, Ataxia, Acroparesthes... ORPHA:206443
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Failure to thrive, Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Failure to thrive, Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Cockayne Syndrome B
Peripheral dysmyelination, Pigmentary retinopathy, Ataxia, Postnatal growth retardation, Severe s... OMIM:133540
Cockayne Syndrome A
Peripheral dysmyelination, Pigmentary retinopathy, Retinal pigment epithelial mottling, Ataxia, A... OMIM:216400
Cln5 Disease
Dysdiadochokinesis, Truncal ataxia, Ataxia, Dysmetria, Abnormality of visual evoked potentials ORPHA:228360
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Cerebrotendinous Xanthomatosis
Hypermyelinated retinal nerve fibers, Ataxia, Somatic sensory dysfunction, Abnormal auditory evok... ORPHA:909
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Ocular albinism, Weight ... ORPHA:79430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Coloboma, Enlarged flash visual evoked potentials, Retinal degeneration, Retinal... OMIM:253280
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Growth delay, Abnormality of visual evoked potentials OMIM:614457
Ruvalcaba Syndrome
Intrauterine growth retardation, Delayed puberty, Abnormality of visual evoked potentials ORPHA:3121
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Abnormality of visual evoked potentials, Ataxia OMIM:203700
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Abnormality of visual evoked potentials, Decreased body weight ORPHA:258
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Ataxia, Decreased nerve conduction velocity ORPHA:512

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 Barhl2

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 Barhl2.

No publications found that use IMPC mice or data for Barhl2.

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MGI Allele Allele Type Produced
Barhl2tm45064(L1L2_Bact_P) Targeting vectors
Barhl2tm45064(L1L2_gt2) Targeting vectors
Barhl2tm45064(L1L2_Pgk_P) Targeting vectors
Barhl2tm45064(L1L2_gt1) Targeting vectors

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