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Gene: Bhlhe23 MGI:2153710

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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:
basic helix-loop-helix family, member e23
Synonyms:
beta-cell E-box transactivating factor 4,  A930001L02Rik,  BETA4,  Bhlhb4

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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 Bhlhe23 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 Bhlhe23 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic atrophy... OMIM:601152
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... ORPHA:485421
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Ocular albinism, Abnormal optic... ORPHA:79431
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
White-Sutton Syndrome
Abnormality of visual evoked potentials, Patent ductus arteriosus, Rod-cone dystrophy, Optic nerv... OMIM:616364
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... ORPHA:309271
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Cockayne Syndrome A
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... OMIM:216400
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Pigmenta... OMIM:133540
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700

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 Bhlhe23

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 Bhlhe23.

No publications found that use IMPC mice or data for Bhlhe23.

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MGI Allele Allele Type Produced
Bhlhe23tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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