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 Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... OMIM:303110
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Waardenburg Syndrome, Type 2E
Hypopigmentation of the fundus, Ocular albinism, Aplasia of the semicircular canal, Abnormal morp... OMIM:611584
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment OMIM:620469
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen... ORPHA:1435
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... OMIM:157800
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Chorioretinal coloboma, Lo... ORPHA:138
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
Norrie Disease
Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Sensorineural hearin... ORPHA:649
Charge Syndrome
Low-set ears, Cupped ear, Retinal coloboma, Aplasia of the semicircular canal, Sensorineural hear... OMIM:214800
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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