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Gene: Clec16a MGI:1921624

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Gene Summary

Name:
C-type lectin domain family 16, member A
Synonyms:
curt,  4932416N17Rik

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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
abnormal embryo size Clec16aem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Clec16aem1(IMPC)J HOM   Early adult 0.00
abnormal body wall morphology Clec16aem1(IMPC)J HOM E18.5 0.00
increased exploration in new environment Clec16aem1(IMPC)J HET Early adult 3.87×10-05

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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 Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Gross Morphology Embryo E18.5

Images

2 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Clec16a 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 Clec16a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
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
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e... OMIM:601382
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials, Atrophy/Degenerati... ORPHA:99852
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Arthrogryposis, Distal, Type 2A
Wrist flexion contracture, Ulnar deviation of the hand or of fingers of the hand, Joint contractu... OMIM:193700
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
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 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
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
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, H... OMIM:109120
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
Trisomy 10P
Abnormality of the ear, EEG with focal spikes, Abnormal hip joint morphology, Dandy-Walker malfor... ORPHA:171929
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Bilateral ptosis, Sensorineural hearing impairment, Optic at... ORPHA:1215
Mend Syndrome
Telecanthus, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Long fingers, 2-... ORPHA:401973
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Scapular winging, Proximal muscle weakn... ORPHA:101085
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... ORPHA:529799
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Optic disc pallor, Abnormality of th... ORPHA:909
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, Abnormal auditory evoked potent... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy OMIM:616881
Cockayne Syndrome B
Abnormal pinna morphology, Cerebellar calcifications, Abnormal auditory evoked potentials, Small ... OMIM:133540
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... OMIM:609136
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Cerebellar h... ORPHA:3240
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Long eyelas... ORPHA:79330
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Macrotia, Optic atrophy, Conjunctivitis, Failure to thrive, ... ORPHA:90321
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Cockayne Syndrome A
Cerebellar atrophy, Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:216400

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 Clec16a

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 Clec16a.

No publications found that use IMPC mice or data for Clec16a.

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MGI Allele Allele Type Produced
Clec16aem1(IMPC)J Exon Deletion Mice

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