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

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 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
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Intellectual Developmental Disorder, X-Linked 63
Anxiety, Microcephaly OMIM:300387
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Frontotemporal cerebral atrophy, Dementia, Inappropriate behavior, Abnormal neuron morphology, Ap... ORPHA:412066
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Abnormal corpus striatum morphology, Striatal T2 hyperintensity ORPHA:494541
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Supernumerary naris, Dilatio... ORPHA:141091
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal lower motor neuron morphology, Abnormal cerebral ... ORPHA:100070
Alg13-Cdg
Anteverted nares, Cognitive impairment, Abnormal lateral ventricle morphology ORPHA:324422
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Congenital Hydrocephalus
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Ventriculomegaly,... ORPHA:2185
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... ORPHA:250972
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Cognitive impairment, Dysgenesis of the basal ganglia... ORPHA:300573
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Apathy, Lewy bodies, Hypersexuality, Disinhibition, Frontotemporal demen... OMIM:607485
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Cognitive impairment, Apathy, Basal ganglia calcification, Anxiety, Depression OMIM:615483
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Central Neurocytoma
Hydrocephalus, Depression, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Wide nose, Hypoplasia of the corpus callosum, Depressed nasal bridge, Abnormal lateral ventricle ... ORPHA:488635
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Depression ORPHA:306669
Alg2-Cdg
Wide nasal bridge, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintens... ORPHA:79326
Martsolf Syndrome 2
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly, Broad nasal tip OMIM:619420
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomeg... OMIM:615219
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Corpus callosum atrophy, Diffuse cerebral atrophy, Dilation of lateral vent... ORPHA:77299
Mental Retardation, Autosomal Dominant 48
Dilated fourth ventricle, Prominent nasal bridge, Low hanging columella, Polymicrogyria, Antevert... OMIM:617751
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Akinetic mutism, Cerebral white matter atrophy, Cognitive impairment, Abnormal caudate nucleus mo... ORPHA:2148
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Malan Overgrowth Syndrome
Optic disc pallor, Depressed nasal bridge, Ventriculomegaly, Dilation of lateral ventricles, Anxi... ORPHA:420179
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Central diabetes insipidus, Dilation of ... OMIM:609637
Cach Syndrome
Optic atrophy, Cognitive impairment, Apathy, Progressive neurologic deterioration, Dysgyria, Irri... ORPHA:135
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microc... OMIM:618890
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Inappropriate crying, Cerebral white matter hypoplasia, Depressed nasal bridge, Simplified gyral ... ORPHA:284417
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Optic nerve hypoplasia, Dilation of lateral ventricles, Agenesis of co... OMIM:618736
Autosomal Recessive Spastic Paraplegia Type 11
Dementia, Hypothalamic atrophy, Orthostatic hypotension, Focal T2 hyperintense basal ganglia lesi... ORPHA:2822
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Self-injurious behavior, Leukoencephalopathy, Abnormal cerebral white matter mo... ORPHA:178469
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Glutamine Deficiency, Congenital
Depressed nasal bridge, Short nose, Subependymal cysts, Wide nasal bridge, Anteverted nares, Dila... OMIM:610015
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Self-injurious behavior, Hypoplastic hippocampus, Dilation of... ORPHA:208447
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Anteverted nares, Polymicrogyria, Microcephaly OMIM:618731
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Ventricul... ORPHA:79243
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, Aggressive behavior, ... ORPHA:488627
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Optic atrophy, Dilated fourth ventricle, Short nose, Recurrent upper r... ORPHA:3078
Weiss-Kruszka Syndrome
Colpocephaly, Short nose, Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, ... OMIM:618619
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Prominent nose, Prominent nasal tip, Abnormal caudate nucleus morphology, Pr... ORPHA:293725
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Impulsivity, Dilation of lateral ventricles, Hypopl... OMIM:618914
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplastic hippocampus, Anteverted nares, Dilation of lateral ventric... OMIM:618606
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Optic disc pallor, Decreased nerve conduction velocity, Abnormal... ORPHA:565624
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral white matter hypoplasia, Dilated fourth ventricle, Aggressive behavior, Leukoencephalopa... ORPHA:572798
Fanconi Anemia, Complementation Group I
Colpocephaly, Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth horm... OMIM:609053
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... ORPHA:544488
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of l... OMIM:617296
Distal Monosomy 10Q
Prominent nose, Facial diplegia, Aggressive behavior, Short nose, Wide nasal bridge, Prominent na... ORPHA:96148
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Short nose, Abnormal corpus callosum morphology, Cavum septum pellucidum, Lo... ORPHA:457279
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Microcephaly OMIM:619278
Slc35A2-Cdg
Dandy-Walker malformation, Cerebral white matter atrophy, Abnormal cerebral white matter morpholo... ORPHA:356961
Cog5-Cdg
Prominent nose, Cerebral white matter atrophy, Wide nasal bridge, Diffuse cerebral atrophy, Dilat... ORPHA:263487
Aicardi-Goutieres Syndrome 9
Optic atrophy, Cerebral calcification, Self-mutilation, Diffuse leukoencephalopathy, Irritability... OMIM:619487
Bainbridge-Ropers Syndrome
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Self-injurious behavior, Shor... OMIM:615485
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Dandy-Walker malformation, Depressed nasal bridge, Colpocephaly, Abnorma... ORPHA:397715
Choreoacanthocytosis
Self-injurious behavior, Apathy, Frontal cortical atrophy, Irritability, Anxiety, Abnormal hippoc... ORPHA:2388
16Q24.3 Microdeletion Syndrome
Colpocephaly, Optic nerve hypoplasia, Ventriculomegaly, Anteverted nares, Hypoplasia of the corpu... ORPHA:261250
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Microcephaly ORPHA:85290
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Prominent nasal tip, Aggressive behavior, Cavum septum pellucidum, Cereb... ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Prader-Willi Syndrome Due To Translocation
Underdeveloped nasolabial fold, Skin-picking, Prominent nose, Broad nasal tip, Happy demeanor, Sh... ORPHA:177907
Halperin-Birk Syndrome
Colpocephaly, Optic atrophy, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Anteverted nares, Dilation of lateral ventricles, Agenesis of corp... OMIM:612863
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Depressed nasal bridge, Self-injurious behavior, Hydrocephalus, Dilation... OMIM:619575
Spondyloenchondrodysplasia
Cerebral calcification, Ventriculomegaly, Abnormal lateral ventricle morphology, Abnormal periven... ORPHA:1855
Aicardi Syndrome
Dilated third ventricle, Optic atrophy, Partial agenesis of the corpus callosum, Choroid plexus c... OMIM:304050
Holoprosencephaly 13, X-Linked
Aplasia of the nose, Septo-optic dysplasia, Colpocephaly, Optic nerve hypoplasia, Agenesis of cor... OMIM:301043
Mosaic Trisomy 1
Depressed nasal bridge, Wide nasal bridge, Polymicrogyria, Dilation of lateral ventricles, Agenes... ORPHA:1692
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly, Small pituitary gland, Dilation of l... OMIM:619479
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Khan-Khan-Katsanis Syndrome
Colpocephaly, Short nose, Microcephaly OMIM:618460
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:309801
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Dysplastic corpus callosum, Colpocephaly, Short nose, Absent septum pe... OMIM:618820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Narrow nasal tip, Cerebral white matter hypoplasia, Colpocephaly, Wide nasal bridge, Anteverted n... ORPHA:477993
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Convex nasal ridge, Agoraphobia, Self-injurious behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Convex nasal ridge, Agoraphobia, Self-injurious behavior,... ORPHA:353277
Kohlschutter-Tonz Syndrome-Like
Dilation of lateral ventricles, Secondary microcephaly, Microcephaly, Ventriculomegaly OMIM:619229
Weaver Syndrome
Dilation of lateral ventricles, Depressed nasal bridge, Absent septum pellucidum OMIM:277590
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Depressed nasal ridge, Optic disc pallor, Depressed nasal bridge, Aggressive behav... OMIM:607872
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Dysplastic corpus callosum, Depressed nasal bridge, Progressive ventriculomegaly, ... ORPHA:500150
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Colpocephaly, Polymicrogyria, Abnormal cerebral white matter... ORPHA:75857
Genitopatellar Syndrome
Prominent nose, Colpocephaly, Wide nose, Prominent nasal bridge, Agenesis of corpus callosum, Mic... OMIM:606170
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Cerebral atrophy, Dilation of lateral ventricles, Hypoplasia of the corpus cal... OMIM:300896
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Dilation of lateral ventricles, Pachygyria OMIM:263520
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal hypointensity of cerebral white matter on MRI, Aganglionic megacolon, Happy demeanor, Cereb... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Focal hypointensity of cerebral white matter on MRI, Aganglionic megacolon, Happy ... ORPHA:261552
Biliary, Renal, Neurologic, And Skeletal Syndrome
Depressed nasal bridge, Anterior pituitary hypoplasia, Hydrocephalus, Anteverted nares, Dilation ... OMIM:619534

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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