Gene Summary

Name:
CECR2, histone acetyl-lysine reader
Synonyms:
2810409N01Rik,  2610101O16Rik,  Gtl4,  cat eye syndrome chromosome region, candidate 2

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 neural tube closure Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal craniofacial morphology Cecr2tm2b(EUCOMM)Hmgu HOM E15.5 0.00
abnormal hindbrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
preweaning lethality, complete penetrance Cecr2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal neural tube closure Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
enlarged lymph nodes Cecr2tm2b(EUCOMM)Hmgu HET Early adult 0.00
decreased exploration in new environment Cecr2tm2b(EUCOMM)Hmgu HET Early adult 3.75×10-05
abnormal hindbrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal midbrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal midbrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 66.67% (2 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 66.67% (2 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 66.67% (2 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Cecr2 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 Cecr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI OMIM:614173
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Pontocerebellar Hypoplasia, Type 12
Microcephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
Atretic occipital cephalocele OMIM:609222
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Parietal Foramina 3
Encephalocele OMIM:609566
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Anterior encephalocele, Facial cleft OMIM:601357
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Triopia
Midline facial cleft, Encephalocele ORPHA:3374
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Lower eyelid coloboma, Ectopic lacrimal punctum, Absent lacrimal punctum, ... OMIM:167730
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Oculotrichoanal Syndrome
Upper eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos ORPHA:2717
Parietal Foramina 2
Encephalocele OMIM:609597
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Parietal Foramina 1
Encephalocele OMIM:168500
Isolated Dandy-Walker Malformation
Encephalocele ORPHA:217
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:324416
Ablepharon-Macrostomia Syndrome
Ablepharon, Absent eyelashes, Absent eyebrow, Cryptophthalmos OMIM:200110
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly OMIM:614120
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Blepharophimosis, Arrhinencephaly, Narrow palpebral fissure, Telecanthus OMIM:300073
Barber-Say Syndrome
Ectropion, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Telecanthus, Ablepharon ORPHA:1231
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus, Frontal encephalocele ORPHA:1528
Supernumerary Nostril
Facial cleft ORPHA:141096
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Eyelid coloboma ORPHA:1104
Schisis Association
Spina bifida, Encephalocele, Anencephaly ORPHA:63862
Subependymal Nodular Heterotopia
Meningocele, Nasofrontal encephalocele, Myelomeningocele, Occipital encephalocele ORPHA:101030
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes OMIM:613456
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly ORPHA:2117
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele OMIM:218670
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Elongated superior cerebell... OMIM:609583
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Facial cleft OMIM:607597
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydr... ORPHA:1532
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Ptosis, Spina bifida occulta, Eyelid coloboma OMIM:268850
Oculocerebrocutaneous Syndrome
Orbital cyst, Eyelid coloboma OMIM:164180
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Agenesis of cerebellar... OMIM:611134
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Temporal cortical atrophy, Mola... OMIM:615665
Bartsocas-Papas Syndrome 1
Axillary pterygium, Absent eyelashes, Blepharophimosis, Ectropion, Cicatricial lagophthalmos, Ups... OMIM:263650
Frontofacionasal Dysplasia
Blepharophimosis, Upper eyelid coloboma, Ptosis, Telecanthus, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1791
Distal Monosomy 13Q
Holoprosencephaly, Encephalocele, Anencephaly ORPHA:1590
Joubert Syndrome 16
Encephalocele OMIM:614465
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly OMIM:603194
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly OMIM:614175
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Encephalocele, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Bartsocas-Papas Syndrome
Ankyloblepharon, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, ... ORPHA:1234
Lissencephaly 8
Occipital encephalocele OMIM:617255
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Meckel Syndrome, Type 8
Encephalocele OMIM:613885
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Fraser Syndrome 3
Cryptophthalmos OMIM:617667
Thanatophoric Dysplasia Type 2
Encephalocele, Holoprosencephaly, Hydrocephalus ORPHA:93274
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid ORPHA:398156
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Eyelid coloboma ORPHA:246
Burn-Mckeown Syndrome
Lower eyelid coloboma, Short palpebral fissure, Blepharophimosis OMIM:608572
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Ptosis, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma ORPHA:1784
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele ORPHA:60015
Joubert Syndrome 9
Encephalocele OMIM:612285
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum OMIM:136760
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Absent eyelashes, Stillbirth, Pterygium, Hydranencephaly, Sma... OMIM:256520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:615287
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brains... OMIM:611560
Ablepharon Macrostomia Syndrome
Absent eyelashes, Absent eyebrow, Umbilical hernia, Ablepharon, Cryptophthalmos ORPHA:920
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Joubert Syndrome 14
Encephalocele, Hydrocephalus OMIM:614424
Helsmoortel-Van Der Aa Syndrome
Downslanted palpebral fissures, Ptosis, Narrow palpebral fissure, Eyelid coloboma OMIM:615873
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Nager Syndrome
Lower eyelid coloboma, Ptosis, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow, Downsla... ORPHA:245
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Type II lissencephaly, Hydroceph... ORPHA:370959
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Olivopontocerebellar hypoplasia... ORPHA:98756
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex morphology ORPHA:411493
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Sparse and thin eyebrow, Sparse eyelashes OMIM:616367
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus OMIM:607361
Toriello-Lacassie-Droste Syndrome
Blepharophimosis, Epicanthus, Abnormal conjunctiva morphology, Short palpebral fissure, Telecanth... ORPHA:3339
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Abnorma... OMIM:608091
Oculocerebrocutaneous Syndrome
Ptosis, Hydrocephalus, Eyelid coloboma ORPHA:1647
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Acromelic Frontonasal Dysostosis
Encephalocele OMIM:603671
Adult Krabbe Disease
Abnormal corpus callosum morphology, Abnormality of the medulla oblongata, Abnormal pons morpholo... ORPHA:206448
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele ORPHA:521308
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Fraser Syndrome 1
Absent eyelashes, Lacrimal duct aplasia, Upper eyelid coloboma, Absent eyebrow, Malformed lacrima... OMIM:219000
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Pai Syndrome
Encephalocele ORPHA:1993
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Hydro... ORPHA:163961
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Eyelid coloboma OMIM:157980
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly, Abnormal eyelash morphology, Epicanthus, Nasolacrimal duct obst... OMIM:147791
Frontofacionasal Dysplasia
Blepharophimosis, Ankyloblepharon, Ptosis, Telecanthus, Eyelid coloboma, Absent inner eyelashes, ... OMIM:229400
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria,... ORPHA:370997
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Downslanted palpebral fissures, Ptosis, Exencephaly, Eyelid coloboma ORPHA:2211
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Encephalocele, Anencephaly, Myelomeningocele,... ORPHA:63259
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of... OMIM:619306
Frontorhiny
Encephalocele, Basal encephalocele, Cranium bifidum occultum ORPHA:391474
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Elongated superio... OMIM:213300
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Hydrocephalus, Eyelid coloboma OMIM:613001
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:608629
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology, Umbilical hernia ORPHA:2095
Acrofacial Dysostosis, Catania Type
Facial cleft, Spina bifida occulta ORPHA:1786
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Upper eyelid coloboma OMIM:603463
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Eyelid coloboma ORPHA:2563
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele ORPHA:228390
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Fraser Syndrome
Lacrimal duct aplasia, Death in infancy, Umbilical hernia, Malformed lacrimal duct, Myelomeningoc... ORPHA:2052
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Elongated superior cerebell... OMIM:610688
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Frontonasal Dysplasia 2
Encephalocele OMIM:613451
Coach Syndrome 1
Occipital encephalocele, Encephalocele OMIM:216360
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Da... ORPHA:397715
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Jacobsen Syndrome
Spina bifida, Ectropion, Aplasia/Hypoplasia of the eyebrow, Epicanthus, Death in infancy, Ptosis,... ORPHA:2308
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal hypothalamus morphology, Abnormal midbrain morp... ORPHA:68
Pseudotrisomy 13 Syndrome
Encephalocele, Holoprosencephaly, Hydrocephalus OMIM:264480
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion, Eyelid coloboma OMIM:263750
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly OMIM:619148
Mosaic Trisomy 9
Spina bifida, Facial cleft ORPHA:99776
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Treacher Collins Syndrome 1
Lacrimal duct stenosis, Upper eyelid coloboma, Lower eyelid coloboma, Ptosis, Sparse lower eyelas... OMIM:154500
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Holoprosencephaly, Hydrocephalus OMIM:253800
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Occipital meningocele, Dilated fourth ventricle... OMIM:243910
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Cer... ORPHA:444072
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Sweeney-Cox Syndrome
Upper eyelid coloboma OMIM:617746
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hydrocephalus ORPHA:90652
Joubert Syndrome 8
Occipital encephalocele OMIM:612291
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Facial cleft ORPHA:268249
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria, Molar tooth sign on MRI, Hydrocephalus OMIM:616546
Acrofacial Dysostosis 1, Nager Type
Lower eyelid coloboma, Aqueductal stenosis, Sparse lower eyelashes, Downslanted palpebral fissure... OMIM:154400
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Facial cleft ORPHA:861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus OMIM:613150
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Epicanthus, Ptosis, Eyelid coloboma, Sparse eyelashes ORPHA:306542
Vacterl/Vater Association
Occipital encephalocele, Anencephaly ORPHA:887
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus OMIM:614643
Hemifacial Microsomia
Limbal dermoid, Blepharophimosis, Branchial anomaly, Upper eyelid coloboma, Hydrocephalus OMIM:164210
Holoprosencephaly
Branchial anomaly, Holoprosencephaly, Spinal dysraphism, Encephalocele, Hydrocephalus ORPHA:2162
Branchioskeletogenital Syndrome
Highly arched eyebrow, Synophrys, Umbilical hernia, Eyelid coloboma, Downslanted palpebral fissur... ORPHA:1299
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Brain stem compression, Aqueductal stenosis, Meningocele, Polymicrogyria, Cortical... ORPHA:1136
Oculoectodermal Syndrome
Epicanthus, Limbal dermoid, Eyelid coloboma OMIM:600268
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal midbrain morphology, Abnormal hypothalamus morpholog... ORPHA:314621
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem m... ORPHA:88619
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Holoprosencephaly, Hydrocephalus, Umbilical hernia ORPHA:2166
Pagod Syndrome
Meningocele, Spina bifida, Encephalocele ORPHA:991
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ab... ORPHA:98755
Atelosteogenesis, Type I
Encephalocele OMIM:108720
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphol... ORPHA:2720
Zechi-Ceide Syndrome
Cephalocele OMIM:612916
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Scalp-Ear-Nipple Syndrome
Palpebral edema, Telecanthus, Eyelid coloboma ORPHA:2036
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Encephalocele, Anencephaly, Spina bifida occulta, Myelomening... ORPHA:2369
3Mc Syndrome 3
Facial cleft OMIM:248340
Short Rib-Polydactyly Syndrome
Facial cleft ORPHA:1505
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Meningoencephalocele, Hydrocephalus OMIM:236670
47,Xyy Syndrome
Increased circulating gonadotropin level, Cerebellar dysplasia, Abnormal brainstem morphology, Dy... ORPHA:8
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Meckel Syndrome
Encephalocele, Lobar holoprosencephaly, Hydrocephalus, Anencephaly ORPHA:564
Charge Syndrome
Highly arched eyebrow, Holoprosencephaly, Epicanthus, Aqueductal stenosis, Ptosis, Eyelid coloboma ORPHA:138
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Eyelid coloboma ORPHA:140952
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Aicardi-Goutières Syndrome
Arrhinencephaly, Ptosis, Eyelid coloboma ORPHA:51
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Molar tooth sign on MRI, A... OMIM:610188
Familial Cerebral Saccular Aneurysm
Encephalomalacia, Abnormal brainstem morphology ORPHA:231160
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphis... ORPHA:1926
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Joubert Syndrome 21
Occipital encephalocele OMIM:615636
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly, Facial cleft OMIM:236100
Meckel Syndrome, Type 1
Large placenta, Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:249000
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Zechi-Ceide Syndrome
Atretic occipital cephalocele ORPHA:217017
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Hydrocephalus OMIM:619321
Knobloch Syndrome 1
Occipital encephalocele OMIM:267750
Poland Syndrome
Encephalocele, Spina bifida occulta ORPHA:2911
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia... ORPHA:2754
Roberts-Sc Phocomelia Syndrome
Stillbirth, Eyelid coloboma, Downslanted palpebral fissures, Shallow orbits, Hydrocephalus OMIM:268300
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Simp... OMIM:615948
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Molar tooth... ORPHA:434179
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Abnormal midbrain morphology, Adrenocorticotropic hormone deficiency, In... ORPHA:293987
Adams-Oliver Syndrome 1
Encephalocele OMIM:100300
Vater/Vacterl Association
Spina bifida, Occipital encephalocele, Patent urachus OMIM:192350
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Fragile X-Associated Tremor/Ataxia Syndrome
Cerebral cortical atrophy, Abnormal brainstem morphology, Diffuse cerebellar atrophy ORPHA:93256
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Facial cleft ORPHA:93271
Semilobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Neural tube defect, Abnormal... ORPHA:93924
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Abnormal brainstem morphology, Micr... ORPHA:464311
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Arnold-Chiari type I malformation, Umbilical hernia, Neural tu... ORPHA:798

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 Cecr2

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 Cecr2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cecr2 mutant mice as a model for human cat eye syndrome. Scientific reports (February 2021) Cecr2tm2b(EUCOMM)Hmgu PMC7862319

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MGI Allele Allele Type Produced
Cecr2tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Cecr2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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