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Gene: Ckmt1 MGI:99441

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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:
creatine kinase, mitochondrial 1, ubiquitous
Synonyms:
Mt-CK,  UbCKmit,  mi-CK

Order Alleles

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 Ckmt1 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 Ckmt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Progressive Supranuclear Palsy
Dystonia, Tremor, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Dep... ORPHA:683
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Limb tremor, Emotional la... OMIM:608643
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk, Depression, Gastroesophageal reflux, Hearing imp... OMIM:620114
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... OMIM:616881
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Macrotia OMIM:617864
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, External ear malfor... ORPHA:438216
Spastic Tetraplegia And Axial Hypotonia, Progressive
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears OMIM:618598
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Chronic diarrhea, Ataxia OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux OMIM:614619
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux OMIM:614618
Choreoacanthocytosis
Bradyphrenia, Short attention span, Limb dystonia, Resting tremor, Head titubation, Hair-pulling,... ORPHA:2388
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Dysphagia, Low-set ears, Cognitive impair... OMIM:617527
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Trichotillomania
Hair-pulling OMIM:613229
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Gastroesophageal reflux OMIM:608800
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Irritability, Gastroesophageal reflux, Macrotia, Simple ear OMIM:615574
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Protruding ear, Irritability, Gastroesophageal reflux, Low-set ears, Dysphagia ORPHA:447997
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Low-set ears, Dysphagia OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment ORPHA:79255
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia, Low-set ears OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Posteriorly rotated ears, Hair-pulling, Protruding ear, Constipation, Attention... OMIM:620330
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Macrotia OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Monosomy 22Q13.3
Hair-pulling, Macrotia, Gastroesophageal reflux, Hearing impairment ORPHA:48652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Constipation, Gastro... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Attention deficit hyperactivity... OMIM:619522

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 Ckmt1

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 Ckmt1.

No publications found that use IMPC mice or data for Ckmt1.

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
Ckmt1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ckmt1tm409683(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ckmt1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ckmt1tm379133(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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