Not currently registered for phenotyping at IMPC

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

Gene Summary

cerebellin 1 precursor protein

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Cbln1 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 Cbln1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor, Nonprogre... ORPHA:94122
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor OMIM:601238
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait OMIM:615945
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Truncal ataxia, Inability to walk OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria OMIM:617584
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... OMIM:616948
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... ORPHA:423275
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy OMIM:616291
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... ORPHA:284332
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... ORPHA:314978
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Loss of ambulation, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... ORPHA:98762
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor OMIM:608029
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... OMIM:610357
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... OMIM:616127
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Dysdiadochokine... OMIM:617633
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Spinocerebellar Ataxia 49
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... OMIM:619806
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Spinocerebellar Ataxia 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... OMIM:117360
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar vermis atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy OMIM:614229
Spinocerebellar Ataxia, Autosomal Recessive 18
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... OMIM:616204
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Progressive gait ataxia, Truncal ataxia, Paralysis, Limb ataxia, Bab... ORPHA:101112
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy OMIM:617691
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... ORPHA:98772
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, D... OMIM:611390
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Cerebellar atrophy OMIM:612020
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:619405
Spinocerebellar Ataxia Type 8
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At... ORPHA:98760
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Clumsiness, Gait disturbance, Ataxia, Positive Romberg sign, Impaired proprio... OMIM:277460


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 Cbln1

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 Cbln1.

No publications found that use IMPC mice or data for Cbln1.

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MGI Allele Allele Type Produced
Cbln1tm387883(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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