Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Clec16aem1(IMPC)J HET   Early adult 7.15×10-05
increased exploration in new environment Clec16aem1(IMPC)J HET Early adult 3.83×10-05
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

Download data as:  TSV  XLS

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

8 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

8 Images

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
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
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, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Failure to thrive, Abnormal ... ORPHA:99852
Abcd Syndrome
Neonatal death, Large for gestational age, White eyebrow, White eyelashes, Abnormal auditory evok... OMIM:600501
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Rocker bottom foot, Talipes equinovarus, Ulnar deviation of the ha... OMIM:193700
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Short 1st metacarpal, Downslante... OMIM:201050
Charcot-Marie-Tooth Disease, Type 4C
Talipes equinovarus, Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment,... OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Absent extraocular muscles, Telecanthus, Abnormal auditory evok... OMIM:109120
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Irregular epiphyses, Optic dis... OMIM:619260
Trisomy 10P
Flexion contracture of thumb, Abnormality of the ear, EEG with burst suppression, Ulnar deviated ... ORPHA:171929
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... ORPHA:206443
Mend Syndrome
Overlapping toe, Failure to thrive, 2-3 toe syndactyly, Upslanted palpebral fissure, Overlapping ... ORPHA:401973
Adult Krabbe Disease
Mental deterioration, EEG abnormality, Progressive neurologic deterioration, Prolonged brainstem ... ORPHA:206448
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Mental deterioration, Progressive neurologic d... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand muscle weakness, Flex... ORPHA:101085
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Cerebrotendinous Xanthomatosis
Abnormality of femur morphology, Abnormal cerebellum morphology, Abnormality of finger, Abnormal ... ORPHA:909
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Cognitive impairm... ORPHA:99027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Cerebellar hypoplasia, Vestibular ... ORPHA:3240
Cockayne Syndrome B
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... OMIM:133540
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Short palpebral fissure, O... ORPHA:79330
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Optic atrophy, Macrotia, Abnormality of p... ORPHA:90321
Cockayne Syndrome A
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... 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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