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 | Myotonia with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, 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 | Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Myotonia of the ja... | ORPHA:684 | |
Normokalemic Periodic Paralysis | Percussion myotonia | OMIM:170600 | |
Myotonia Congenita, Autosomal Recessive | Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia | 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 | |
Paramyotonia Congenita Of Von Eulenburg | Percussion myotonia, Paradoxical myotonia, Handgrip myotonia | OMIM:168300 | |
Muscular Dystrophy, Barnes Type | Myotonia | OMIM:158800 | |
Brody Disease | Myotonia, Percussion myotonia | OMIM:601003 | |
Hyperkalemic Periodic Paralysis | Myotonia | OMIM:170500 | |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency | Myotonia | ORPHA:371 | |
Myotonia Fluctuans | Myotonia of the face, Myotonia with warm-up phenomenon, Myotonia of the upper limb, Handgrip myot... | ORPHA:99734 | |
Hypokalemic Periodic Paralysis, Type 1 | Myotonia | OMIM:170400 | |
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 | |
Episodic Ataxia, Type 2 | Myotonia | OMIM:108500 | |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia | Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Myotonia | ORPHA:324442 | |
Distal Myopathy, Tateyama Type | Percussion-induced rapid rolling muscle contractions | ORPHA:488650 | |
Richieri Costa-Da Silva Syndrome | Myotonia of the upper limb, Handgrip myotonia | ORPHA:3101 | |
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 | |
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, Handgrip myotonia | OMIM:602668 | |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | Myotonia | ORPHA:98855 | |
Hyperkalemic Periodic Paralysis | Myotonia | ORPHA:682 | |
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 | |
Idiopathic Camptocormia | Myotonia | ORPHA:1320 | |
Stuve-Wiedemann Syndrome 1 | 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 upper limb, Myotonia of the jaw, Handgrip myotonia, 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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