Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hes family bHLH transcription factor 5
Synonyms:
bHLHb38

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 Hes5 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 Hes5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Chorioretinal degeneration, P... OMIM:303110
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypopigmentation of the fund... OMIM:611584
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Congenital stationary ... ORPHA:90646
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Astrocytosis OMIM:172500
Distal Monosomy 10Q
Abnormality of the outer ear, Low-set ears, Cochlear malformation, Congenital sensorineural heari... ORPHA:96148
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, Sensorineural hea... ORPHA:50815
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Prelingual sensorineural ... ORPHA:52368
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing... OMIM:610706
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... ORPHA:87
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Reticular pigmentary degeneratio... ORPHA:1435
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Abnormal cranial nerv... ORPHA:990
Branchiootorenal Syndrome 1
Cupped ear, Incomplete partition of the cochlea type II, Conductive hearing impairment, Sensorine... OMIM:113650
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Saethre-Chotzen Syndrome
Low-set ears, Prominent crus of helix, Conductive hearing impairment, Sensorineural hearing impai... ORPHA:794
Noonan Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the semicircular ... ORPHA:648
Charge Syndrome
Hypoplasia of the semicircular canal, Chorioretinal coloboma, Abnormal cranial nerve morphology, ... ORPHA:138
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Microtia, Bilateral sensorineural hearing impairment, Apl... ORPHA:2306
Charge Syndrome
Cupped ear, Low-set ears, Sensorineural hearing impairment, Aplasia of the semicircular canal, Mi... OMIM:214800
Norrie Disease
Abnormal vitreous humor morphology, Abnormal helix morphology, Sensorineural hearing impairment, ... ORPHA:649
Schinzel-Giedion Syndrome
Large earlobe, Abnormality of the outer ear, Abnormal helix morphology, Low-set ears, Aganglionic... ORPHA:798

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 Hes5

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 Hes5.

No publications found that use IMPC mice or data for Hes5.

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MGI Allele Allele Type Produced
Hes5tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Hes5tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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