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:
E130309B19Rik,  MBH1

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
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Bone spicule pigmentation of the retin... OMIM:618889
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Failure to thrive OMIM:271930
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Growth delay, Failure to thrive OMIM:274270
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Impaired vibratory sensation, Gait ataxia, Peripheral axonal neuropathy, Sensory a... OMIM:620221
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Ataxia ORPHA:1186
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Retinoschisis, Opt... OMIM:615651
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Joubert Syndrome 15
Coloboma, Retinopathy, Retinal dystrophy, Ataxia OMIM:614464
Joubert Syndrome 22
Coloboma, Intrauterine growth retardation, Retinal dysplasia OMIM:615665
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy, Ataxia ORPHA:324737
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leber Optic Atrophy
Optic atrophy, Leber optic atrophy, Central retinal vessel vascular tortuosity, Ataxia, Optic neu... OMIM:535000
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Abruzzo-Erickson Syndrome
Short stature, Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Aniridia 2
Optic atrophy, Aniridia, Iris coloboma OMIM:617141
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Failure to thrive, Optic disc pallor, Truncal ataxia, Optic neuropathy, Choreoathe... OMIM:618249
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Limb ataxia, Gait ataxia, Dysmetria, Impaired proprioception, Dyssynergia, At... ORPHA:101
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Postnatal growth retardation, Coloboma, Morning glory an... ORPHA:91412
Coach Syndrome 2
Coloboma, Chorioretinal coloboma OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment OMIM:613153
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Coloboma, Failure to thrive OMIM:612379
Microphthalmia, Syndromic 5
Short stature, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Retinitis Pigmentosa 74
Optic disc pallor, Obesity, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Verheij Syndrome
Intrauterine growth retardation, Coloboma, Short stature, Growth delay, Small for gestational age... OMIM:615583
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Coloboma, Retinal detachment, Optic nerve hypoplasia ORPHA:370959
Biemond Syndrome Type 2
Short stature, Obesity, Coloboma, Delayed puberty ORPHA:141333
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Macular hypoplasia, Aniridia, Coloboma ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Retinal thinning, Abnormality of retinal pigmentation, Cone/con... ORPHA:85167
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Joubert Syndrome 14
Optic atrophy, Coloboma, Ataxia, Growth delay, Morning glory anomaly OMIM:614424
Coach Syndrome 1
Optic disc pallor, Coloboma, Growth delay, Ataxia OMIM:216360
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal atrophy, Coloboma, Retinal detachment, Retinal dysplasia, Optic nerve hypo... OMIM:236670
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Postnatal growth retardation,... ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Coloboma, Enlarge... OMIM:253280
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Coloboma, Short stature, Optic nerve hypoplasia OMIM:206900
Thauvin-Robinet-Faivre Syndrome
Large for gestational age, Coloboma, Retinal coloboma OMIM:617107

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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Barhl2tm45064(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Barhl2tm45064(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Barhl2tm45064(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Barhl2tm45064(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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