Gene Summary

Name:
zinc finger CCCH type containing 14
Synonyms:
1010001P15Rik,  2700069A02Rik,  1700016A15Rik

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 cornea morphology Zc3h14tm1a(KOMP)Wtsi HOM Early adult 4.73×10-05
decreased body length Zc3h14tm1a(KOMP)Wtsi HOM   Early adult 1.83×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Skull Lateral Orientation

4 Images

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

X-ray

XRay Images Forepaw

3 Images

Legacy Phenotype Associated Images

Human diseases caused by Zc3h14 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.

The table below shows human diseases associated to Zc3h14 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Non-Syndromic Intellectual Disability
Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 56
OMIM:617125

The table below shows human diseases predicted to be associated to Zc3h14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Spinocerebellar Ataxia 32
Testicular atrophy, Cognitive impairment, Infertility, Azoospermia OMIM:613909
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cognitive impairment, Male infertility, Azoospermia ORPHA:276183
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Micropenis, Polymicrogyria, Bilateral cryptorchidism OMIM:300982
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Cognitive impairment, Dysgenesis of the basal ganglia... ORPHA:300573
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Cataract 47
Microcornea, Cataract OMIM:612018
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Microcephaly OMIM:618165
Alg13-Cdg
Cognitive impairment, Abnormal lateral ventricle morphology ORPHA:324422
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Hydrocephalus,... ORPHA:2185
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Martsolf Syndrome 2
Dilation of lateral ventricles, Hypogonadotropic hypogonadism, Hypoplasia of the corpus callosum,... OMIM:619420
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus callosum OMIM:616816
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cerebral calcification OMIM:613987
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Memory impairment, Lewy bodies, Frontotemporal dementia, Dilation of lat... OMIM:607485
Cach Syndrome
Secondary amenorrhea, Cognitive impairment, Progressive neurologic deterioration, Dysgyria, Prima... ORPHA:135
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... ORPHA:137596
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Myotonic Dystrophy 1
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Alg2-Cdg
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:79326
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Mental Retardation, Autosomal Dominant 48
Hypospadias, Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia... OMIM:617751
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Ventricul... ORPHA:79243
Holoprosencephaly 5
Central diabetes insipidus, Dilation of lateral ventricles, Hydrocephalus, Microcephaly OMIM:609637
Microphthalmia-Brain Atrophy Syndrome
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Diabetes mellitus, Microcephaly OMIM:619278
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles, Hydrocele testis ORPHA:85290
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Cognitive impairment, Abnormal caudate nucleus morphology, Pachygy... ORPHA:2148
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Dilation of lateral ventricles, Agenesis of corpus callosum, Microcephaly OMIM:618736
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... ORPHA:178469
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly OMIM:615219
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Simplified gyral pattern, Primary microcephaly, Hypoplasia of t... ORPHA:284417
Autosomal Recessive Spastic Paraplegia Type 11
Dementia, Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia n... ORPHA:2822
Brittle Cornea Syndrome 1
Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus OMIM:229200
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... ORPHA:208447
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Colpocephaly, Absent septum pellucidum, Clitoral hypertrophy, Micropenis, H... OMIM:309801
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Abnormal corpus callosum morphology, Abnormal cerebral white mat... ORPHA:565624
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Cerebral atrophy OMIM:222300
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Slc35A2-Cdg
Dandy-Walker malformation, Cerebral white matter atrophy, Cortical dysplasia, Abnormal cerebral w... ORPHA:356961
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Hypothyroidism, Decreased response to growth hormone stim... OMIM:609053
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... OMIM:618606
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... ORPHA:300570
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... ORPHA:488627
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Agenesis of corpus callosum, Dysplastic corpus callosum, Streak ovary, Chordee, Colp... OMIM:618820
Glutamine Deficiency, Congenital
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Subependymal cysts OMIM:610015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Abnormal preputium morphology, Primary ... ORPHA:293725
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly ORPHA:3078
Malan Overgrowth Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:420179
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Hypothyroidism, Cerebral calc... ORPHA:1855
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Dilated third ventricle, Dandy-Walker malformation, Colpocephaly, Abnormal corpus ca... ORPHA:397715
16Q24.3 Microdeletion Syndrome
Colpocephaly, Cryptorchidism, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:261250
Cog5-Cdg
Cerebral white matter atrophy, Micropenis, Diffuse cerebral atrophy, Dilation of lateral ventricl... ORPHA:263487
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Dilation of lateral ventricles,... OMIM:617296
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral white matter hypoplasia, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly... ORPHA:572798
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Diffuse leukoencephalopathy, Micropenis, Hypothyroidism, Cerebral atrophy... OMIM:619487
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Cognitive impairment,... ORPHA:273
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Dilated third ventricle, Male urethral meatus stenosis, Cholelithiasis, Cavum septum... ORPHA:464738
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Probst bundles OMIM:612863
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618914
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Cerebral white matter hypoplasia, Colpocephaly, Chordee, Cryptorchidism, Hypoplasia ... ORPHA:477993
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Bainbridge-Ropers Syndrome
Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus callosum, Precocious pub... OMIM:615485
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... OMIM:304050
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Mosaic Trisomy 1
Micropenis, Polymicrogyria, Dilation of lateral ventricles, Penile hypospadias, Agenesis of corpu... ORPHA:1692
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Megalencephaly, Cerebral edema,... ORPHA:3063
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum, Cryptorchidism, Hydrocele testis OMIM:277590
Distal Monosomy 10Q
Cavum septum pellucidum, Dilation of lateral ventricles, Microcephaly ORPHA:96148
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Ventriculomegaly, Small pituitary gland, Micropenis, Dilation of lateral ventricles,... OMIM:619479
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Kohlschutter-Tonz Syndrome-Like
Dilation of lateral ventricles, Secondary microcephaly, Microcephaly, Ventriculomegaly OMIM:619229
6Q Terminal Deletion Syndrome
Hypospadias, Abnormal cerebral cortex morphology, Colpocephaly, Phimosis, Polymicrogyria, Abnorma... ORPHA:75857
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, External genital hypoplasia, Microcephaly, Anterior pituitary hypo... ORPHA:177907
Khan-Khan-Katsanis Syndrome
Colpocephaly, Microcephaly OMIM:618460
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Micropenis, Ambiguous genitalia, Dilation of lateral ventricles, Pancreatic fibrosis OMIM:263520
Genitopatellar Syndrome
Enlarged labia minora, Colpocephaly, Clitoral hypertrophy, Micropenis, Cryptorchidism, Agenesis o... OMIM:606170
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Holoprosencephaly 13, X-Linked
Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia OMIM:301043
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Social and occupational deterioration, Abnormal corpus callosum morphology, Secondar... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Social and occupational deterioration, Abnormal corpus callosum morphology, Secondar... ORPHA:353277
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Choreoacanthocytosis
Caudate atrophy, Bradyphrenia, Abnormal putamen morphology, Frontal cortical atrophy, Hypoplastic... ORPHA:2388
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive ventriculomegaly, Abnormal cerebral cortex morphology, Si... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Congenital hypothyroidism, Abnormal external genitalia, Leukoencephalopathy, Microce... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Cerebral atrophy, Dilation of lateral ventricles, Hypoplasia of the corpus... OMIM:300896
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Focal hypointensity of cerebral white matter on MRI, Bifid scrotum, Cerebral white m... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Focal hypointensity of cerebral white matter on MRI, Bifid scrotum, Cerebral white m... ORPHA:261552
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia, Hydrocephalus, Dilati... OMIM:619534
Autosomal Recessive Non-Syndromic Intellectual Disability
Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 56
OMIM:617125

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 Zc3h14

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 Zc3h14.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Zc3h14tm1a(KOMP)Wtsi PMC7263671
Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain. Science translational medicine (December 2019) Zc3h14tm1d(KOMP)Wtsi 31852801
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Zc3h14tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)