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 9.95×10-05
abnormal embryo size Clec16aem1(IMPC)J HOM E18.5 0.00
abnormal body wall morphology Clec16aem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Clec16aem1(IMPC)J HOM   Early adult 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.

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Electrocardiogram (ECG)

Waveform Image

16 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
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Giant somat... OMIM:601068
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Failure to thrive, Abnormal ... ORPHA:99852
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Broad finger, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Long eyelashes, ... OMIM:617523
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Cerebellar atrophy, Wrist flexion contracture, Fl... OMIM:193700
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Hammertoe, Axonal degeneration, Abnor... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Hammertoe, Claw hand deformity, Sensorineural hearing impair... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Telecanthus, Sensorineural hearing impairment, Abnormal auditory evok... OMIM:109120
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Irregular epiphyses, Sensorineural hearing impairment, Brain atrophy, Cerebella... OMIM:619260
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Trisomy 10P
Abnormality of the ear, Abnormality of the hand, Ulnar deviated club hands, Low voltage EEG, EEG ... ORPHA:171929
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Mend Syndrome
Telecanthus, Dandy-Walker malformation, 2-3 toe syndactyly, Low-set ears, Abnormal auditory evoke... ORPHA:401973
Charcot-Marie-Tooth Disease Type 1F
Abnormality of the hand, Proximal muscle weakness in upper limbs, Decreased nerve conduction velo... ORPHA:101085
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormality of the hand, Global brain atrophy, Decreased nerve conduction velocity... ORPHA:909
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
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
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Square pelvis bone, Death in childhood, Decreased nerve conducti... OMIM:133540
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time OMIM:616881
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Abnormal cerebellar peduncl... ORPHA:99027
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Diffuse cerebral atrophy, Vestibular areflexia, Absent brainstem auditory ... ORPHA:3240
Mogs-Cdg
Optic atrophy, Short palpebral fissure, Sensorineural hearing impairment, Absent brainstem audito... ORPHA:79330
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality, Abnormal medulla obl... ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment agang... OMIM:609136
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Square pelvis bone, Decreased nerve conduction velocity, Sensori... OMIM:216400
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Failure to thri... ORPHA:90321

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.

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
Clec16aem1(IMPC)J Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter