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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 external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Abnormal na... ORPHA:141091
Alg13-Cdg
Anteverted nares, Cognitive impairment, Abnormal lateral ventricle morphology ORPHA:324422
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Lissencephaly 4
Wide nasal bridge, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Memory impairment, Inappropriate behavior, Lateral ventricle dilatation, Frontal lobe dementia, A... OMIM:221770
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Central Neurocytoma
Abnormal lateral ventricle morphology, Depression, Hydrocephalus ORPHA:73256
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Bulbous nose, Colpocephaly, Hydrocephalus ORPHA:2185
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Depression, Lateral ventricle dilatation OMIM:615889
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Lateral ventricle dilatation OMIM:300982
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge, Colpocephaly OMIM:614870
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive... OMIM:607485
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Anteverted nares, Dilated... OMIM:613443
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Depressed nasal bridge, Abnormal lateral ventricle morphology, Wide nose ORPHA:488635
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation ORPHA:306669
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Lateral ventricle dilatation, Agenesis of corpus callosum, Attention de... ORPHA:300573
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Bruxism, Short nose OMIM:615716
Martsolf Syndrome 2
Broad nasal tip, Lateral ventricle dilatation OMIM:619420
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Depressed nasal bridge, Optic atrophy, Ventriculomegaly, Irritability, A... OMIM:619833
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Holoprosencephaly 5
Hydrocephalus, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation OMIM:609637
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Ventriculomegaly, Agenesis of corpus callosum, Irritability, Colpocephaly, Choking... OMIM:620352
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Depressed nasal bridge, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Low ins... OMIM:619995
Cach Syndrome
Optic atrophy, Lateral ventricle dilatation, Irritability, Cognitive impairment, Progressive neur... ORPHA:135
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Pontocerebellar Hypoplasia, Type 1A
Dysphagia, Lateral ventricle dilatation, Degeneration of anterior horn cells OMIM:607596
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Lateral ventricle dilatation, Dandy-Walker malformation, Optic nerve... OMIM:618736
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Anteverted nares, Prominent nasal bridge, Dilated fourth ventricle,... OMIM:617751
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Lateral ventricle dilatation ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Lateral ventricle dilatation OMIM:618330
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Subepe... OMIM:610015
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:616034
Alg2-Cdg
Wide nasal bridge, Lateral ventricle dilatation ORPHA:79326
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Restlessness, Lateral ventricle dilatation OMIM:619517
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Anteverted nares OMIM:618731
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Short attention span, Attention deficit hyperactivity disorder, Imp... OMIM:617854
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Hydroce... OMIM:615219
Adams-Oliver Syndrome 2
Depressed nasal bridge, Optic atrophy, Lateral ventricle dilatation, Bulbous nose, Hydrocephalus OMIM:614219
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Hypothalamic atrophy, Memory impairment, Lateral ventricle dilatation, Shor... ORPHA:2822
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilate... ORPHA:3078
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Irritability, Cognitive impairment, Dysphagia, Agitation ORPHA:2148
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation, Oral-pharyngeal dysphagia ORPHA:208447
Weiss-Kruszka Syndrome
Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Colpocephaly, Short nose OMIM:618619
Joubert Syndrome 3
Wide nasal bridge, Anteverted nares, Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Depressed nasal bridge, Lateral ventricle dilatation, Aggressive behavio... OMIM:620075
Malan Overgrowth Syndrome
Depressed nasal bridge, Optic disc pallor, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Anteverted nares, Short nose OMIM:614105
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Broad columella, Lateral ventricle dilatation, Thick nasal alae, Bulbous nose, Depressed nasal ti... ORPHA:293725
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Prominent nose, Agenesis of corpus callosu... OMIM:619244
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... OMIM:618914
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Depressed nasal bridge, Dilated third ventricle, Head-banging, Lateral v... OMIM:619575
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydroceph... OMIM:613154
Pontocerebellar Hypoplasia, Type 13
Anteverted nares, Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Anteverted nares, Short attention span, Agenesis of corpus callosum... OMIM:612863
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Bulbous nose, Dys... ORPHA:544488
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Aggressive beh... ORPHA:457279
Halperin-Birk Syndrome
Optic atrophy, Ventriculomegaly, Pseudobulbar paralysis, Agenesis of corpus callosum, Colpocephaly OMIM:618651
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, O... OMIM:617296
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Self-injurious behavior, Broad nasal tip, Lateral vent... OMIM:615485
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Short attention span, Emotional lability, Abnormal autonomic nervou... ORPHA:300570
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Anteverted nares, Colpocephaly, Dysphagia, Optic nerve hypoplasia ORPHA:261250
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Aggressive behavior, ... ORPHA:488627
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Lateral ventricle dilatation OMIM:256850
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
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Long nose, Partial agenesis of the corpu... OMIM:620113
Distal Deletion 10Q
Wide nasal bridge, Lateral ventricle dilatation, Prominent nose, Prominent nasal bridge, Facial d... ORPHA:96148
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Dysphagia, ... ORPHA:2388
Wars2-Related Combined Oxidative Phosphorylation Defect
Wide nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Aggr... ORPHA:572798
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Cog5-Cdg
Wide nasal bridge, Prominent nose, Neurogenic bladder, Lateral ventricle dilatation ORPHA:263487
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Broad nasal tip, Head-banging, Lateral ventricle dilatation, Anteverted... ORPHA:177907
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Depressed nasal bridge, Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, ... ORPHA:397715
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Short attention span, Stereotypical hand wringing... OMIM:619229
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Low hanging columella, Agenesis of corpus callosum OMIM:617260
Aicardi-Goutieres Syndrome 9
Optic atrophy, Lateral ventricle dilatation, Self-mutilation, Irritability OMIM:619487
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Anteverted nares, Agenesis of corpus callo... ORPHA:464738
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Lateral ventricle dilatation, Bruxism, Ante... OMIM:615873
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Spondyloenchondrodysplasia
Ventriculomegaly, Abnormal lateral ventricle morphology ORPHA:1855
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic atrophy, Optic nerve compression, Lateral ventricle dilatation OMIM:612301
Gabriele-De Vries Syndrome
Attention deficit hyperactivity disorder, Broad nasal tip, Lateral ventricle dilatation OMIM:617557
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly, Dysphagia, Short nose OMIM:618460
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum, Aplasia of the nasal bone, Attention def... OMIM:618820
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Wide nasal bridge, Dilated third ventricle, Lateral ventricle dilatation, Bulbous nose, Anteverte... OMIM:620371
Holoprosencephaly 13, X-Linked
Agenesis of corpus callosum, Colpocephaly, Aplasia of the nose, Septo-optic dysplasia, Optic nerv... OMIM:301043
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Abnormal lateral ventricle morphology, E... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Abnormal lateral ventricle morphology, E... ORPHA:353277
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Colpocephaly, Optic nerve dysplasia, Agenesis of corpus callosum OMIM:614866
Aicardi Syndrome
Optic atrophy, Dilated third ventricle, Lateral ventricle dilatation, Optic disc coloboma, Anteve... 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
Dysphagia, Lateral ventricle dilatation, Irritability OMIM:618367
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Neurocardiofaciodigital Syndrome
Overhanging nasal tip, Optic disc pallor, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Wide nasal bridge, Colpocephaly, Anteverted nares, Narrow nasal tip ORPHA:477993
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Self-mutilation, Aganglionic megacol... OMIM:270400
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Lateral ventricle dilatation, Underdeveloped nasal alae, Narrow naris OMIM:614098
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Prominent nose, Anteverted nares, Agenesis of corpus callosum, Colp... OMIM:210710
Chromosome 1P36 Deletion Syndrome, Distal
Wide nasal bridge, Depressed nasal ridge, Optic atrophy, Depressed nasal bridge, Lateral ventricl... OMIM:607872
Genitopatellar Syndrome
Wide nasal bridge, Prominent nose, Prominent nasal bridge, Agenesis of corpus callosum, Colpoceph... OMIM:606170
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Progressive ventriculomegaly, Ventricul... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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