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 predicted to be associated to Strit1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Thomsen And Becker Disease | Myotonia | ORPHA:614 | |
Proximal Myotonic Myopathy | Myotonia | ORPHA:606 | |
Rippling Muscle Disease 1 | Percussion-induced rapid rolling muscle contractions, Muscle mounding | OMIM:600332 | |
Normokalemic Periodic Paralysis | Percussion myotonia | OMIM:170600 | |
Myotonia Congenita, Autosomal Dominant | Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... | OMIM:160800 | |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia | Myotonia | OMIM:254950 | |
Paramyotonia Congenita Of Von Eulenburg | Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... | ORPHA:684 | |
Myotonia Congenita, Autosomal Recessive | Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs | OMIM:255700 | |
Muscular Dystrophy, Barnes Type | Myotonia | OMIM:158800 | |
Paramyotonia Congenita | Percussion myotonia, Handgrip myotonia, Paradoxical myotonia | OMIM:168300 | |
Hyperkalemic Periodic Paralysis | Myotonia | OMIM:170500 | |
Rippling Muscle Disease 2 | Percussion-induced rapid rolling muscle contractions, Muscle mounding | OMIM:606072 | |
Brody Disease | Percussion myotonia, Myotonia | OMIM:601003 | |
Myotonia, Potassium-Aggravated | Percussion myotonia, Handgrip myotonia, Myotonia | OMIM:608390 | |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency | Myotonia | ORPHA:371 | |
Myotonia Fluctuans | Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... | ORPHA:99734 | |
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 | |
Episodic Ataxia, Type 2 | Myotonia | OMIM:108500 | |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia | Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia | ORPHA:324442 | |
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 | |
Richieri Costa-Da Silva Syndrome | Handgrip myotonia, Myotonia of the upper limb | ORPHA:3101 | |
Congenital-Onset Steinert Myotonic Dystrophy | Myotonia | ORPHA:589821 | |
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 |
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