Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myosin, light polypeptide kinase
Synonyms:
telokin,  Mlck,  MLCK210,  MLCK108,  9530072E15Rik,  A930019C19Rik,  nmMlck

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 Mylk 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 Mylk by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
OMIM:249210
Aortic Aneurysm, Familial Thoracic 7
OMIM:613780
Familial Thoracic Aortic Aneurysm And Aortic Dissection
ORPHA:91387

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Myotonia Congenita, Autosomal Dominant
Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up pheno... OMIM:160800
Myotonic Myopathy With Cylindrical Spirals
Percussion myotonia OMIM:160990
Thomsen And Becker Disease
Myotonia ORPHA:614
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myotonia of the upper limb, Myotoni... ORPHA:684
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Paramyotonia Congenita Of Von Eulenburg
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia OMIM:168300
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Myotonia Fluctuans
Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the upper limb, ... ORPHA:99734
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia OMIM:137200
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Myotonia, Handgrip myotonia, Percussion-induced rapid rolling muscle contractions ORPHA:324442
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Distal Myopathy, Tateyama Type
Percussion-induced rapid rolling muscle contractions ORPHA:488650
Myotonia Permanens
Myotonia ORPHA:99735
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Myotonia of the upper limb ORPHA:3101
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Spastic Paraplegia 79, Autosomal Recessive
Myotonia OMIM:615491
Myotonic Dystrophy 1
Myotonia OMIM:160900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Myotonic Dystrophy 2
Myotonia OMIM:602668
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:261
Hyperkalemic Periodic Paralysis
Myotonia ORPHA:682
Schwartz-Jampel Syndrome, Type 1
Myotonia OMIM:255800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myotonic runs ORPHA:353
Stuve-Wiedemann Syndrome
Myotonia OMIM:601559
Schwartz-Jampel Syndrome
Myotonia ORPHA:800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs ORPHA:206549
Lipodystrophy, Congenital Generalized, Type 4
Muscle mounding OMIM:613327
Steinert Myotonic Dystrophy
Myotonia of the jaw, Myotonia with warm-up phenomenon, Handgrip myotonia, Myotonia of the upper limb ORPHA:273
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis ORPHA:2241
Aortic Aneurysm, Familial Thoracic 7
OMIM:613780
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
OMIM:249210
Familial Thoracic Aortic Aneurysm And Aortic Dissection
ORPHA:91387

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 Mylk

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 Mylk.

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

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MGI Allele Allele Type Produced
Mylktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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