Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calcitonin receptor-like
Synonyms:
CRLR

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 Calcrl 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 Calcrl by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773

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

Disease Similarity of
phenotypes
Matching phenotypes Source
German Syndrome
Lymphedema, Cor pulmonale, Arthrogryposis multiplex congenita OMIM:231080
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Premature birt... ORPHA:1909
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Increased placental thickness, Abnormal heart morphology, Lymphedema,... ORPHA:1041
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Flexion contracture, Nonimmune hydrops fetalis, Splenomegaly, ... OMIM:608540
Glycogen Storage Disease Iv
Polyhydramnios, Arthrogryposis multiplex congenita, Hydrops fetalis, Esophageal varix, Decreased ... OMIM:232500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence, Flexion contracture, Dilated cardiomyopathy, Bradycardi... OMIM:618815
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Oligohydramnios, Lymphedema, Gastroesophageal reflux, Patent ductus arteriosus, Hypertension, Rig... OMIM:613623
Choanal Atresia And Lymphedema
Lymphedema, High palate, Pericardial effusion OMIM:613611
Anemia, Congenital Dyserythropoietic, Type Iv
Splenomegaly, Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Angioedema, Hereditary, 3
Angioedema, Pharyngeal edema, Intestinal edema, Facial edema OMIM:610618
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Hepatosplenomegaly, Tela... ORPHA:101028
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia, Hypertrophic card... ORPHA:79279
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Arthrogryposis multiplex congenita OMIM:616342
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystro... OMIM:255320
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Gastroesophageal reflux, Tricuspid regurgitation, Pulmonic ste... ORPHA:2414
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Edema of the dorsum of hands, Hypotension, Dys... ORPHA:100050
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Congestive heart fa... ORPHA:163596
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Hydrops fetalis, Stillbirth, Fetal akinesia sequence, Intracr... ORPHA:85212
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Congestive heart failure, Premature birth, Cardiomegaly, Ascites, Splenomegaly, ... OMIM:269920
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Hydrops fetalis, Maternal diabetes, Paroxysmal supraventri... ORPHA:45452
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Chylous Ascites
Lymphedema, Abnormal intestine morphology, Ascites ORPHA:1160
Melorheostosis
Lymphedema, Skeletal muscle atrophy ORPHA:2485
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Pericardial lymphangiectasia, Camptodactyly, Intestinal lymphangiectasia OMIM:616006
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Lymphatic Malformation 3
Lymphedema OMIM:613480
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Ascites, Card... OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Lymphedema, Dysphagia, Tetralogy of ... ORPHA:2077
Sialidosis Type 2
Hydrops fetalis, Flexion contracture, Pedal edema, Ascites, Skeletal muscle atrophy, Splenomegaly ORPHA:87876
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... OMIM:601927
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Lymphedema, Webbed neck, Pleural effusion, Gastroesophageal... OMIM:616843
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventri... OMIM:239850
Angioedema, Hereditary, 1
Pharyngeal edema, Intestinal edema, Laryngeal edema, Angioedema OMIM:106100
Lymphedema, Primary, With Myelodysplasia
Lymphedema, Webbed neck OMIM:614038
Mpi-Cdg
Lymphedema, Malabsorption ORPHA:79319
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Gastrointestinal hemorrhage, Abnormal tricuspid valve morp... ORPHA:90308
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:1263
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death, Hydrops fetalis OMIM:276822
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Combined Oxidative Phosphorylation Defect Type 27
Dysphagia, Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema, Breech presentation OMIM:600972
Lymphatic Malformation 2
Lymphedema OMIM:611944
Alg8-Cdg
Lymphedema ORPHA:79325
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Congestive heart failure, Microglossia, Cardiomegaly, Ascit... OMIM:253250
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Lymph node hypoplasia, Peripheral ede... ORPHA:90186
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Splenomegaly ORPHA:2204
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Flexion contracture, Congestive heart failure, Predominantly lower limb ... ORPHA:261519
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Premature birth, Stillbirth OMIM:215045
Cholestasis-Lymphedema Syndrome
Lymphedema, Malabsorption, Splenomegaly OMIM:214900
Lissencephaly 2
Lymphedema OMIM:257320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Webbed neck, Pleural effusion, Flexio... OMIM:616897
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Polyhydramnios, Fetal akinesia sequence, Flexion contracture, E... ORPHA:367
Lymphedema-Distichiasis Syndrome
Arrhythmia, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Predominantly lower ... OMIM:153400
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth, Ascites ORPHA:2123
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Narrow palate, Oligohydramnios, Ventricular septal defect, Fetal akinesia sequen... OMIM:617022
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Protein-losing enteropathy, Facial edema, Edema OMIM:618154
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Fabry Disease
Arrhythmia, Angina pectoris, Lymphedema, Hypertension, Myocardial infarction, Congestive heart fa... OMIM:301500
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cronkhite-Canada Syndrome
Lymphedema, Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sp... ORPHA:2930
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Mitochondrial Trifunctional Protein Deficiency
Prenatal maternal abnormality, Arrhythmia, Hydrops fetalis, Abnormality of the amniotic fluid, Rh... OMIM:609015
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Thin skin, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palma... OMIM:607823
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial effusion, Fetal distr... ORPHA:292
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Tricuspid regurgitation, Edema, Mitral stenosis, Tricuspid va... OMIM:212093
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Lymphedema, Epistaxis, Chylothorax, Congestive heart failure, Cerebral... ORPHA:137667
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Greenberg Dysplasia
Lymphedema, Preeclampsia ORPHA:1426
Buschke-Ollendorff Syndrome
Lymphedema, Flexion contracture, Generalized limb muscle atrophy, Hypertension ORPHA:1306
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Ascites, Splenomegaly ORPHA:834
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphedema, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Ileus, Chylous ... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Monosomy 18P
Lymphedema, Webbed neck, Hypertension, Cleft palate ORPHA:1598
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse, Lymphedema, Webbed neck, Gastroesophageal reflux, Hi... OMIM:619087
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Plantar telangiectasia, Pleural effusion, Predominantly lower l... ORPHA:69735
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse OMIM:247410
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Kaposi Sarcoma
Lymphedema, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lym... ORPHA:33276
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy OMIM:607115
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the t... OMIM:619313
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Patent ductu... ORPHA:261344
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Malabsorption ORPHA:1116
Mosaic Trisomy 9
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Hydrops fetalis, Oligohydramnios, ... ORPHA:99776
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated... OMIM:230500
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Lymphatic Malformation 4
Lymphedema OMIM:615907
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Thickened nuchal skin fold, Ventricular septal defect, Lymphedema, Protein-losing... OMIM:235255
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Mitral valve prolapse ORPHA:1563
Cholestasis-Lymphedema Syndrome
Lymphedema, Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly ORPHA:1414
Alpha-Thalassemia
Hydrops fetalis, Hypersplenism, Splenomegaly ORPHA:846
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema, Cleft palate OMIM:200610
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Facial edema, Gen... ORPHA:568051
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Thin skin, Congestive heart failure, Premature birth, Nonimmune hydrops ... OMIM:166210
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Hydrops fetalis, Ventricular septal defect, Abnormal heart... ORPHA:354
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Cleft palate, Facial edema OMIM:153200
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Abnormal heart valve morphology, Flexion contracture, Splenomegaly, Cardiomyopathy OMIM:253220
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Secondary Intestinal Lymphangiectasia
Lymphedema, Pleural effusion, Pedal edema, Chylous ascites, Malabsorption ORPHA:90363
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Narrow palate, Ventricular septal defect, Lymphedema, Pleural effusion, Per... OMIM:235510
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Splenomegaly OMIM:224120
Infantile Systemic Hyalinosis
Camptodactyly of finger, Lymphedema, Abnormality of the gastrointestinal tract, Steatorrhea, Tela... ORPHA:2176
Trisomy 13
Hydrops fetalis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cleft... ORPHA:3378
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Hepatocellular necrosis, Oligohydramnios OMIM:231100
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Takenouchi-Kosaki Syndrome
Lymphedema, Webbed neck, Camptodactyly, Patent ductus arteriosus, Pulmonic stenosis, Abnormal car... OMIM:616737
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Pigmented Villonodular Synovitis
Lymphedema, Joint swelling ORPHA:66627
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Lymphedema, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Ca... ORPHA:79280
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Epistaxis, Predominantly lower limb lymphedema, Upper eyelid edema, Pat... ORPHA:293939
Milroy Disease
Lymphedema, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Cerebrofacioarticular Syndrome
Anal stenosis, Abnormal heart morphology, Lymphedema, Camptodactyly, Pulmonic stenosis, Anteriorl... ORPHA:314679
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Hydrops fetalis, Hepatocellular carcinoma, Cardiomyopathy ORPHA:88618
Campomelia, Cumming Type
Lymphedema, Polysplenia OMIM:211890
Campomelia, Cumming Type
Hydrops fetalis, Oligohydramnios, Lymphedema, Cleft palate, Abnormal intestine morphology ORPHA:1318
Ring Chromosome 22 Syndrome
Lymphedema, Protruding tongue, Pleural effusion, Edema ORPHA:1446
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal endocardium morphology, An... ORPHA:324
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly ORPHA:766
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Decreased fetal mo... OMIM:607598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema OMIM:152950
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Increased placental thickness, Abnormal heart morphology, Flexion contracture, S... ORPHA:1865
Yellow Nail Syndrome
Pulmonary arterial hypertension, Lymphedema, Biliary tract neoplasm ORPHA:662
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Webbed neck, Chylothorax, Aortic valve stenosis, Bicuspid aortic valv... OMIM:613563
Cardiofaciocutaneous Syndrome
Atrial septal defect, Abnormal heart valve morphology, Webbed neck, Abnormality of the gastrointe... ORPHA:1340
Mucopolysaccharidosis Type 7
Lymphedema, Hydrops fetalis, Ascites, Splenomegaly ORPHA:584
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Lymphedema, Dysphagia, Lower limb muscle weakness, Distal amyotrophy, Ge... ORPHA:2822
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Noonan Syndrome
Thickened nuchal skin fold, Arrhythmia, Lymphedema, Webbed neck, High palate, Abnormal pulmonary ... ORPHA:648
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Narrow palate, Intracranial hemorrhage, Angina pectoris, Lymphedema, Int... ORPHA:109
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Abnormality of the amniotic fluid, Hypoplasia of the musculat... OMIM:253310
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Chromomycosis
Lymphedema, Edema, Predominantly lower limb lymphedema ORPHA:182
Phelan-Mcdermid Syndrome
Ventricular septal defect, Lymphedema, Palpebral edema, Gastroesophageal reflux, Patent ductus ar... OMIM:606232
Hennekam Syndrome
Camptodactyly of finger, Hydrops fetalis, Lymphedema, Pericardial effusion, Pyloric stenosis, Chy... ORPHA:2136
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Arthrogryposis multiplex congenita, Dysphagia, Decreased fetal movement, Prematur... OMIM:608013
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Cleft palate, Patent f... OMIM:228520
Oculoectodermal Syndrome
Atrial septal defect, Lymphedema, Patent ductus arteriosus, Transient ischemic attack, Hypertroph... OMIM:600268
Gm1 Gangliosidosis Type 1
Macroglossia, Hydrops fetalis, Abnormal placenta morphology, Hepatosplenomegaly, Cardiomyopathy ORPHA:79255
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Lymphedema, Telangiectasia of extensor surfaces, Facial telangiectasia in butterfly midface distr... OMIM:137940
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Cleft palate OMIM:616546
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Cleft palate ORPHA:85166
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate OMIM:616738
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Pulmonary insufficiency, Patent ductus arteriosus, Intestinal malrotation, Pulmon... OMIM:265380
Lymphedema-Distichiasis Syndrome
Arrhythmia, Webbed neck, Patent ductus arteriosus, Predominantly lower limb lymphedema, Cleft palate ORPHA:33001
Farber Disease
Hydrops fetalis, Joint swelling, Flexion contracture, Ascites, Skeletal muscle atrophy, Hepatospl... ORPHA:333
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:200600
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Ascites, Chylothorax, Lymphadenopathy, Chylopericardium ORPHA:538
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
American Trypanosomiasis
Arrhythmia, Cardiomyopathy, Aganglionic megacolon, Achalasia, Congestive heart failure, Splenomeg... ORPHA:3386
Lymphangiectasia, Intestinal
Stillbirth, Pedal edema, Edema, Intestinal lymphangiectasia, Malabsorption OMIM:152800
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Nonimmune hydrops fetalis OMIM:256540
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Lymphedema, Webbed neck, Camptodactyly, Flexion contracture, Patent du... ORPHA:487796
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Tracheoesophageal fistula, Congenital diaphragmatic h... ORPHA:268249
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Lymphedema, Telangiectasia of the skin, Pulmonary embolism, Congesti... ORPHA:2346
Congenital Disorder Of Glycosylation, Type Ia
Abnormality of the amniotic fluid, Pericardial effusion, Flexion contracture, Nonimmune hydrops f... OMIM:212065
Eosinophilic Fasciitis
Muscular edema, Edema, Abnormal eosinophil morphology, Myositis, Eosinophilia ORPHA:3165
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Short uvula, Ascites, Cleft palate, High palate OMIM:614091
Greenberg Dysplasia
Polyhydramnios, Stillbirth, Pleural effusion, Intestinal malrotation, Neonatal death, Cardiomegal... OMIM:215140
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Cranioectodermal Dysplasia 2
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Polysplenia, Patent ductus arteriosus, Hyp... OMIM:613610
Noonan Syndrome 1
Atrial septal defect, Ventricular septal defect, Lymphedema, Webbed neck, Patent ductus arteriosu... OMIM:163950
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Intestinal malrotation, Hamarto... OMIM:263520
Thymic Tumor
Pericarditis, Palpebral edema, Dysphagia, Edema, Cardiac arrest, Mediastinal lymphadenopathy ORPHA:100100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Glossitis, Abnormal heart morphology, Subdural hemorrhage, Pulmonary arterial hy... ORPHA:79282
Pearson Syndrome
Median cleft lip and palate, Hydrops fetalis, Cardiac conduction abnormality, Abnormal heart morp... ORPHA:699
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly OMIM:266200
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Klippel-Trenaunay-Weber Syndrome
Lymphedema OMIM:149000
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Left ventricular systolic dysfunction, ... ORPHA:51608
Gaucher Disease
Arthrogryposis multiplex congenita, Hydrops fetalis, Abnormal heart valve morphology, Mitral valv... ORPHA:355
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Premature birth, Edema OMIM:602522
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Premature birth, Pulmonary arterial h... OMIM:216340
Clapo Syndrome
Lymphedema ORPHA:168984
Spondylodysplastic Ehlers-Danlos Syndrome
Atrial septal defect, Abnormal heart valve morphology, Thin skin, Lymphedema, Flexion contracture... ORPHA:536471
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Flexion contracture, High palate OMIM:300868
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Lymphedema, Pleural effusion, Edema, Chylothorax ORPHA:2526
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal ... OMIM:619167
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Chronic noninfectious lymphadenopathy, Hepatocellular carcinoma, Lymphadenopathy... ORPHA:3261
Lymphatic Filariasis
Lymphadenitis, Lymphedema, Predominantly lower limb lymphedema, Hypereosinophilia, Lymphadenopathy ORPHA:2035
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Edema, Skeletal muscle atrophy, Splenomegaly, Myositis, Lymphadenopathy OMIM:619183
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Hereditary Elliptocytosis
Hydrops fetalis, Splenomegaly ORPHA:288
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Facial palsy, Edema, Periorbital edema, Lymphadenopathy ORPHA:2483
Kanzaki Disease
Lymphedema, Lip telangiectasia, Telangiectasia of the oral mucosa OMIM:609242
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Thickened nuchal skin fold, A... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Thickened nuchal skin fold, A... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thickened nuchal skin fold, A... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thickened nuchal skin fold, A... ORPHA:99226
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Yunis-Varon Syndrome
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Renovascular hy... ORPHA:3472
Aarskog Syndrome, Autosomal Dominant
Lymphedema, Flexion contracture, Anal atresia, Cleft palate, Rectoperineal fistula OMIM:100050
Blackfan-Diamond Anemia
Atrial septal defect, Adenocarcinoma of the colon, Ventricular septal defect, Abnormal heart morp... ORPHA:124
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema, Cleft palate ORPHA:3144
Niemann-Pick Disease Type C
Hydrops fetalis, Dysphagia, Fetal ascites, Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdom... ORPHA:646
Phocomelia, Schinzel Type
Hydrops fetalis, Anal atresia, Cleft palate, High, narrow palate, Tracheoesophageal fistula ORPHA:2879
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Protruding tongue, Hydrops fetalis, Premature birth ORPHA:50945
Proteus Syndrome
Decreased muscle mass, Lymphedema, Sudden cardiac death, Pulmonary embolism, Splenomegaly, Thymus... ORPHA:744
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Functional intestinal obs... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Functional intestinal obs... ORPHA:100077
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Edema, Abnormality of the gastric mucosa, C... ORPHA:263665
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Small intestinal polyposis, Edema, Adeno... ORPHA:329971
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Congestive heart failure, Edema, Bacterial endocarditis ORPHA:1054
Monosomy 22Q13.3
Lymphedema, Gastroesophageal reflux, Palpebral edema ORPHA:48652
Hepatoerythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly ORPHA:95159
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Increased stool urobilinogen concentration, Edema, Nonimmune h... ORPHA:79277
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Pmm2-Cdg
Anasarca, Pericarditis, Angina pectoris, Intracranial hemorrhage, Pericardial effusion, Lymphedem... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Esophageal atresia, Ectopic anus, Anal atresia, Bifid tongue ORPHA:93271
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Mitral regurgitation, Abnormal left ventricular function, ... ORPHA:391665

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 Calcrl

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 Calcrl.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disturbed flow-induced Gs-mediated signaling protects against endothelial inflammation and atherosclerosis. JCI insight (December 2020) Calcrltm1c(KOMP)Wtsi PMC7714404

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MGI Allele Allele Type Produced
Calcrltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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