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Gene: Car3 MGI:88270

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Gene Summary

Name:
carbonic anhydrase 3
Synonyms:
Car-3

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired righting response Car3em1(IMPC)Hmgu HET   Early adult 8.07×10-05
abnormal auditory brainstem response Car3em1(IMPC)Hmgu HET   Early adult 3.10×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Human diseases caused by Car3 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 Car3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot... OMIM:125250
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac... ORPHA:206448
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Macrotia, Abnormality of peri... ORPHA:90321
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnormal auditory evoked ... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:216400
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears 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 Car3

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 Car3.

No publications found that use IMPC mice or data for Car3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Car3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Car3em1(IMPC)Hmgu Exon Deletion Mice

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