Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cadherin, EGF LAG seven-pass G-type receptor 2
Synonyms:
Adgrc2,  EGFL2,  mfmi1,  flamingo

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Celsr2 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 Celsr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle OMIM:617296
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:3078
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum ORPHA:544488
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Agenesis of corpus callosu... ORPHA:79243
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegaly, Colpocephaly, Dandy-Walk... ORPHA:397715
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Cach Syndrome
Lateral ventricle dilatation, T2 hypointense thalamus ORPHA:135
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation ORPHA:178469
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly ORPHA:488627
Slc35A2-Cdg
Lateral ventricle dilatation, Elevated circulating thyroid-stimulating hormone concentration, Dan... ORPHA:356961
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Wars2-Related Combined Oxidative Phosphorylation Defect
Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculomegaly ORPHA:572798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormality of thalamus mo... ORPHA:300570
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle ORPHA:314404
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle OMIM:619575
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Distal Monosomy 10Q
Lateral ventricle dilatation ORPHA:96148
Aicardi Syndrome
Partial agenesis of the corpus callosum, Dilated third ventricle, Choroid plexus cyst, Dandy-Walk... OMIM:304050
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Dilated third ventricle, Dilated fourth ventricle, Dandy... ORPHA:434179
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Anterior pit... ORPHA:177907
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618619
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum OMIM:609053
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Ventricul... ORPHA:500150
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Colpocephaly,... OMIM:617260
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Abnormal lateral ventricle morphology, Ven... ORPHA:1855
Halperin-Birk Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618651
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261537
Khan-Khan-Katsanis Syndrome
Colpocephaly OMIM:618460
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261552
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:618820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Dandy-Walker malformation OMIM:270400
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology ORPHA:353277
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170

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 Celsr2

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 Celsr2.

No publications found that use IMPC mice or data for Celsr2.

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MGI Allele Allele Type Produced
Celsr2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Celsr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Celsr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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