Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calmodulin binding transcription activator 1
Synonyms:
2310058O09Rik,  1810059M14Rik

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 Camta1 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.

The table below shows human diseases associated to Camta1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal pyramidal sign, Ataxia, Unsteady gait, Dysmetria, Intention tremor, Nonprogressive cereb... ORPHA:314647
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756

The table below shows human diseases predicted to be associated to Camta1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Slurred speech, Poor fine mo... ORPHA:157941
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Abnormal posturing, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... ORPHA:216866
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... ORPHA:225147
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Abnormal posturing, Spasticity OMIM:304700
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Impaired vibratory sensation, Abnormal pyramidal sign, Titubation, Dysmetria,... ORPHA:459056
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Titubation, Dysmetria ORPHA:98771
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Titubation, ... ORPHA:98768
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Unilateral Polymicrogyria
Pseudobulbar paralysis, Abnormal posturing, Poor fine motor coordination, Hemiparesis, Spastic te... ORPHA:268943
Vici Syndrome
Abnormal posturing OMIM:242840
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal pyramidal sign, Ataxia, Unsteady gait, Dysmetria, Intention tremor, Nonprogressive cereb... ORPHA:314647
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756

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 Camta1

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 Camta1.

No publications found that use IMPC mice or data for Camta1.

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MGI Allele Allele Type Produced
Camta1tm455363(L1L2_GT2_LF2A_LacZ_BetactP_neo) Targeting vectors
Camta1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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