Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
claudin 14
Synonyms:
N/A

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 Cldn14 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.

The table below shows human diseases associated to Cldn14 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035

The table below shows human diseases predicted to be associated to Cldn14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Axonal degeneration... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Diffuse cerebral atrophy ORPHA:3240
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Optic nerve hypoplasia, Absent brainstem auditory responses, Decrea... ORPHA:101085
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, Prolonged brainstem audit... ORPHA:206436
Cockayne Syndrome Type 1
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Abnormality of ... ORPHA:90321
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked ... ORPHA:909
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973

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 Cldn14

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 Cldn14.

No publications found that use IMPC mice or data for Cldn14.

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MGI Allele Allele Type Produced
Cldn14tm48040(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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