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Gene: C2cd2l MGI:1919014

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Gene Summary

Name:
C2 calcium-dependent domain containing 2-like
Synonyms:
1300006O23Rik,  Tmem24

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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
decreased exploration in new environment C2cd2lem1(IMPC)J HOM Early adult 1.66×10-05
decreased startle reflex C2cd2lem1(IMPC)J HOM   Early adult 2.15×10-06
abnormal auditory brainstem response C2cd2lem1(IMPC)J HOM   Early adult 1.76×10-06

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.

PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

14 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

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Human diseases caused by C2cd2l 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 C2cd2l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment 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
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
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, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... OMIM:616881
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... ORPHA:99027
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response, Hearing impairment OMIM:620114
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Macroti... OMIM:617864
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
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, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Mental deterioration, Progressiv... ORPHA:206448
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Opt... ORPHA:909
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Optic atrophy, Depression, Dystonia, ... ORPHA:845
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Macrotia, Abnormality of peripheral n... ORPHA:90321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Orthostatic hypotension OMIM:268800
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:216400
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Cognitive impairment, Low-... OMIM:617527
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:133540
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Attention deficit... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213

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 C2cd2l

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 C2cd2l.

No publications found that use IMPC mice or data for C2cd2l.

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
C2cd2ltm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd2ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd2ltm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd2lem1(IMPC)J Exon Deletion Mice
C2cd2ltm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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