Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
oxidized low density lipoprotein (lectin-like) receptor 1
Synonyms:
SR-EI,  Scare1,  LOX-1

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 Olr1 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 Olr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Abnormal blood potassium concentration, Para... ORPHA:684
Myotonia Congenita, Autosomal Dominant
Myotonia, Percussion myotonia, EMG: myotonic runs, Handgrip myotonia, Myotonia with warm-up pheno... OMIM:160800
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Elevated circulating creat... OMIM:606072
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Myotonia Congenita, Autosomal Recessive
EMG: myotonic runs, Myotonia with warm-up phenomenon, Percussion myotonia, Myotonia OMIM:255700
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Paradoxical myotonia, Percussion myotonia OMIM:168300
Thomsen And Becker Disease
Myotonia ORPHA:614
Distal Myopathy, Tateyama Type
Palpitations, Percussion-induced rapid rolling muscle contractions, Abnormal circulating creatine... ORPHA:488650
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Hyperkalemic Periodic Paralysis
Hyperkalemia, Myotonia OMIM:170500
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Elevated circulating creatine kinase concentration, Myotonia OMIM:137200
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Myotonia, Elevated circulating ... OMIM:602668
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Myotonia ORPHA:371
Myotonia, Potassium-Aggravated
Elevated circulating creatine kinase concentration, Myotonia OMIM:608390
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Myofibrillar Myopathy 10
Increased QRS voltage, Percussion myotonia, Prolonged QTc interval, Elevated circulating creatine... OMIM:619040
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Myopathy, X-Linked, With Excessive Autophagy
Elevated circulating creatine kinase concentration, Myotonia OMIM:310440
Myotonia Fluctuans
Myotonia of the upper limb, Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, ... ORPHA:99734
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Hyperkalemia, Myotonia, Elevated... ORPHA:682
Myotonic Dystrophy 1
Atrial fibrillation, Atrial flutter, First degree atrioventricular block, Myotonia OMIM:160900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Sudden cardiac death, Myotonia, Elevated circulating creatine kinase conc... ORPHA:98855
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Myotonia, Elevated cir... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Myotonia, Elevated cir... ORPHA:98853
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Sudden cardiac death, Myotonia, Elevated circulating creatine kinase... ORPHA:98863
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Elevated circulating cre... ORPHA:324442
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Zebra Body Myopathy
Elevated circulating creatine kinase concentration, Handgrip myotonia ORPHA:97240
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, EMG: myotonic runs, Elevated circulating creatine kinase c... ORPHA:353
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Myotonia of the upper limb ORPHA:3101
Myotonia Permanens
Myotonia ORPHA:99735
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Spastic Paraplegia 79, Autosomal Recessive
Myotonia OMIM:615491
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Myotonia OMIM:601559
Lipodystrophy, Congenital Generalized, Type 4
Muscle mounding, Decreased circulating IgA level, Elevated circulating creatine kinase concentrat... OMIM:613327
Schwartz-Jampel Syndrome, Type 1
Myotonia OMIM:255800
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:206549
Idiopathic Camptocormia
Elevated circulating creatine kinase concentration, Myotonia ORPHA:1320
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Elevated circulating creatine kinase concentration, Arrhythmia, ... ORPHA:800
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Myotonia of... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216

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 Olr1

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 Olr1.

No publications found that use IMPC mice or data for Olr1.

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MGI Allele Allele Type Produced
Olr1tm458683(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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