Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 |
---|---|---|---|
Thomsen And Becker Disease | Myotonia | ORPHA:614 | |
Myotonia Congenita, Autosomal Dominant | Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... | OMIM:160800 | |
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 | Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... | ORPHA:684 | |
Normokalemic Periodic Paralysis | Percussion myotonia | OMIM:170600 | |
Myotonia Congenita, Autosomal Recessive | Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs | OMIM:255700 | |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia | Myotonia | OMIM:254950 | |
Paramyotonia Congenita | Percussion myotonia, Handgrip myotonia, Paradoxical myotonia | OMIM:168300 | |
Muscular Dystrophy, Barnes Type | Myotonia | OMIM:158800 | |
Rippling Muscle Disease 2 | Percussion-induced rapid rolling muscle contractions, Muscle mounding | OMIM:606072 | |
Brody Disease | Percussion myotonia, Myotonia | OMIM:601003 | |
Hyperkalemic Periodic Paralysis | Myotonia | OMIM:170500 | |
Myotonia, Potassium-Aggravated | Percussion myotonia, Handgrip myotonia, Myotonia | OMIM:608390 | |
Myotonia Fluctuans | Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... | ORPHA:99734 | |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency | Myotonia | ORPHA:371 | |
Hypokalemic Periodic Paralysis, Type 1 | Myotonia | OMIM:170400 | |
Myotonia With Skeletal Abnormalities And Mental Retardation | Myotonia | OMIM:255710 | |
Acetazolamide-Responsive Myotonia | Myotonia | ORPHA:99736 | |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 | Percussion myotonia | ORPHA:34516 | |
Myopathy, X-Linked, With Excessive Autophagy | Myotonia | OMIM:310440 | |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy | Myotonia | ORPHA:209335 | |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia | Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia | ORPHA:324442 | |
Episodic Ataxia, Type 2 | Myotonia | OMIM:108500 | |
Hypokalemic Periodic Paralysis | Myotonia | ORPHA:681 | |
Distal Myopathy, Tateyama Type | Percussion-induced rapid rolling muscle contractions | ORPHA:488650 | |
Myofibrillar Myopathy 10 | Percussion myotonia | OMIM:619040 | |
Myotonia Permanens | Myotonia | ORPHA:99735 | |
Episodic Ataxia Type 1 | Myotonia | ORPHA:37612 | |
Zebra Body Myopathy | Handgrip myotonia | ORPHA:97240 | |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome | Myotonia | ORPHA:391307 | |
Myotonic Dystrophy 1 | Myotonia | OMIM:160900 | |
Myotonic Dystrophy 2 | Handgrip myotonia, Myotonia | OMIM:602668 | |
Spastic Paraplegia 79B, Autosomal Recessive | Myotonia | OMIM:615491 | |
Congenital-Onset Steinert Myotonic Dystrophy | Myotonia | ORPHA:589821 | |
Richieri Costa-Da Silva Syndrome | Handgrip myotonia, Myotonia of the upper limb | ORPHA:3101 | |
Hyperkalemic Periodic Paralysis | Myotonia | ORPHA:682 | |
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 | |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 | EMG: myotonic runs | ORPHA:353 | |
Schwartz-Jampel Syndrome, Type 1 | Percussion myotonia | OMIM:255800 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 | Percussion myotonia | OMIM:620275 | |
Idiopathic Camptocormia | Myotonia | ORPHA:1320 | |
Stuve-Wiedemann Syndrome 1 | Myotonia | OMIM:601559 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Handgrip myotonia | ORPHA:438216 | |
Schwartz-Jampel Syndrome | Myotonia | ORPHA:800 | |
Thyrotoxic Periodic Paralysis | Myotonia | ORPHA:79102 | |
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 | Handgrip myotonia, Myotonia of the upper limb, Myotonia of the jaw, Myotonia with warm-up phenomenon | ORPHA:273 | |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome | Hypoperistalsis | ORPHA:2241 | |
Aortic Aneurysm, Familial Thoracic 7 | OMIM:613780 | ||
Familial Thoracic Aortic Aneurysm And Aortic Dissection | ORPHA:91387 | ||
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 | OMIM:249210 |
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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 |
Mylktm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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