Registered for phenotyping at IMPC

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

Gene Summary

Name:
cordon-bleu WH2 repeat
Synonyms:
C530045F18Rik

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 Cobl 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 Cobl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... ORPHA:52368
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality ORPHA:206448
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, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Male hypogonadism, Macrotia, ... ORPHA:90321
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic at... ORPHA:79330
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Cryptorchidism 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 Cobl

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 Cobl.

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

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
Cobltm191774(pL1L2_frt_BetactP_neo_frt_lox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cobltm191774(pL1L2_GT0_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Coblem1(IMPC)Ccpcz Exon Deletion Mice
Cobltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cobltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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