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Gene: Chl1 MGI:1098266

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cell adhesion molecule L1-like
Synonyms:
close homolog of L1,  CALL,  A530023M13Rik,  LICAM2

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Chl1 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 Chl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares, Cognitive impairment ORPHA:324422
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge OMIM:614019
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Inappropriate... OMIM:221770
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic deterioration OMIM:620315
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Depression ORPHA:73256
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Optic atrophy, Colpocephaly, Ventriculomegaly ORPHA:2185
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Dementia, Depression OMIM:615889
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Anteverted nares OMIM:300982
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge OMIM:614870
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Lateral ventricle dilatation,... OMIM:613443
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Depression ORPHA:306669
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge ORPHA:488635
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Cognitive impairment, Attention deficit hyperactivity disorder, Abn... ORPHA:300573
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge, Lateral ventricle dilatation, Bruxism, Short nose OMIM:615716
Martsolf Syndrome 2
Lateral ventricle dilatation, Broad nasal tip OMIM:619420
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Aggressive behavior, Hydrocephalus, Optic atrophy, Irritability, Self-inj... OMIM:619833
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Irritability, Colpocephaly, Choking episodes, Agenesis of corpus callosum, Ventric... OMIM:620352
Holoprosencephaly 5
Lateral ventricle dilatation, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:609637
Cach Syndrome
Progressive neurologic deterioration, Optic atrophy, Irritability, Lateral ventricle dilatation, ... ORPHA:135
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Lateral ventricle dilatation, Dysphagia OMIM:607596
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Depressed nasal bridge OMIM:619955
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker m... OMIM:618736
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric... OMIM:619995
2,4-Dienoyl-Coa Reductase Deficiency
Colpocephaly, Optic atrophy, Hydrocephalus, Ventriculomegaly OMIM:616034
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Tongue thrusting ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Anteverted nares, Prominent nasal bridge, Lateral ventri... OMIM:617751
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Lateral ventricle dilatation OMIM:618330
Glutamine Deficiency, Congenital
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl... OMIM:610015
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Alg2-Cdg
Lateral ventricle dilatation, Wide nasal bridge ORPHA:79326
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Impulsivity, Lateral ventricle dilatation, Attention deficit ... OMIM:617854
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Anteverted nares OMIM:618731
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation OMIM:614219
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Orthostatic hypotension, Mental deterioration, Memory impairment, Lateral v... ORPHA:2822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Optic atrophy, Colpocephaly, Agenesis o... OMIM:615219
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Optic atrophy, Lateral ve... ORPHA:3078
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... ORPHA:208447
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia ORPHA:2148
Weiss-Kruszka Syndrome
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Self-injurious behavior, Lateral vent... OMIM:620075
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge OMIM:608629
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Depressed nasal bridge, Bulbous nose, Lateral ventricle dilatation, Short nose OMIM:614105
Malan Overgrowth Syndrome
Optic disc pallor, Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly ORPHA:420179
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Prominent nose, Aggressive behavior, Lateral ventricle dilatation, Dilated third ventricle, Agene... OMIM:619244
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Facial palsy OMIM:256850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat... ORPHA:293725
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated third ventr... OMIM:613154
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Depressed nasal bridge, Hydrocephalus, Head-banging, Self-injurious behavio... OMIM:619575
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:616602
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Anteverted nares, Dandy-Walker malformation OMIM:618606
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:620156
Chromosome 6Q24-Q25 Deletion Syndrome
Short attention span, Anteverted nares, Hydrocephalus, Lateral ventricle dilatation, Diminished a... OMIM:612863
Halperin-Birk Syndrome
Optic atrophy, Pseudobulbar paralysis, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Lateral ventricle dilatation, Low frustration tolerance, Abnormal temper tan... ORPHA:457279
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Bulbous nose, Self-injurious behavior, Lateral v... ORPHA:544488
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ... OMIM:617296
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Lateral ve... ORPHA:300570
16Q24.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Colpocephaly, Dysphagia, Ventriculomegaly ORPHA:261250
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia, Ventric... ORPHA:488627
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:609053
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpu... OMIM:620113
Distal Deletion 10Q
Prominent nasal bridge, Aggressive behavior, Prominent nose, Wide nasal bridge, Facial diplegia, ... ORPHA:96148
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Aggressive behavior, Wide nasal bridge, Lateral ventricle dilatation, D... ORPHA:572798
Choreoacanthocytosis
Compulsive behaviors, Decreased amplitude of sensory action potentials, Self-mutilation of tongue... ORPHA:2388
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Cog5-Cdg
Lateral ventricle dilatation, Wide nasal bridge, Neurogenic bladder, Prominent nose ORPHA:263487
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Head-banging, Lateral ven... ORPHA:177907
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ventriculomegaly, Lateral ventricle dilatation, Agitation, Dysphagia, Abnor... OMIM:619229
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Depressed nasal bridge, Lateral ventricle dilatation, Colpocephaly, Abnormal op... ORPHA:397715
Aicardi-Goutieres Syndrome 9
Irritability, Lateral ventricle dilatation, Optic atrophy, Self-mutilation OMIM:619487
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Low hanging columella OMIM:617260
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Aggressive behavior, Lateral ventricle dilatation, Prominent nasal tip, Dilated... ORPHA:464738
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Anteverted nares, Facial palsy, Broad nasal tip, Abnormal repetitive mannerisms, B... OMIM:615873
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Optic nerve compression, Optic atrophy, Hydrocephalus OMIM:612301
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Broad nasal tip OMIM:617557
Khan-Khan-Katsanis Syndrome
Colpocephaly, Short nose, Ventriculomegaly, Dysphagia OMIM:618460
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Dysplastic corpus callosum, Colpocephaly, Attention deficit hyperactiv... OMIM:618820
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Colpocephaly, Aplasia of the nose, Agenesis of cor... OMIM:301043
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Optic atrophy, Agenesis of corpus callosum, Optic nerve dysplasia OMIM:614866
Aicardi Syndrome
Anteverted nares, Partial agenesis of the corpus callosum, Optic disc coloboma, Choroid plexus cy... OMIM:304050
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Colpocephaly, Narrow nasal ridge OMIM:620083
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Lateral ventricle dilatation, Dysphagia OMIM:618367
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly OMIM:619479
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Anteverted nares, Wide nasal bridge, Narrow nasal tip ORPHA:477993
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Hyperactivity, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Aggressive behavi... OMIM:270400
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Lateral ventricle dilatation, Narrow naris, Underdeveloped nasal alae OMIM:614098
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Lateral ventricle dilatation, Overhanging nasal tip OMIM:619869
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:309801
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Progressive neurologic deterioration, Prominent nose, Partial agenesis of the c... OMIM:210710
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Depressed nasal bridge, Aggressive behavior, Hydrocephalus, Optic disc colobom... OMIM:607872
Genitopatellar Syndrome
Wide nose, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Colpocephaly, Dysphagia, Ag... OMIM:606170
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Wide n... ORPHA:500150
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857

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 Chl1

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 Chl1.

No publications found that use IMPC mice or data for Chl1.

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MGI Allele Allele Type Produced
Chl1tm182037(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Chl1tm182037(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Chl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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