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
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... 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
Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites ORPHA:295
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Arrhythmia, Nonimmune hydrops fetalis, Pleural effusio... ORPHA:1041
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Hydrops fetalis, Decreased feta... OMIM:232500
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the ... OMIM:608540
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites,... OMIM:619433
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Patent ductus arteriosus, Gastroesophageal reflux, Pulmonary arterial hypertension, ... OMIM:613623
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Choanal Atresia And Lymphedema
High palate, Lymphedema, Pericardial effusion OMIM:613611
Angioedema, Hereditary, 3
Pharyngeal edema, Intestinal edema, Angioedema, Facial edema OMIM:610618
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Telangiecta... ORPHA:101028
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Generalized amyotrophy, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Lymphedema, Tela... ORPHA:79279
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Splenomegaly, Pleural effusio... ORPHA:2414
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Arthrogryposis multiplex congenita OMIM:616342
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, Ve... ORPHA:3405
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, High palate, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscl... OMIM:255320
Hereditary Angioedema Type 1
Pharyngeal edema, Abnormal soft palate morphology, Hypotension, Intestinal edema, Dysphagia, Edem... ORPHA:100050
Infantile Sialic Acid Storage Disease
High palate, Congestive heart failure, Hydrops fetalis, Splenomegaly, Ascites, Cardiomegaly, Prem... OMIM:269920
Fetal Gaucher Disease
High palate, Flexion contracture, Hydrops fetalis, Splenomegaly, Decreased fetal movement, Fetal ... ORPHA:85212
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Polyhydramnios, Preeclampsia, Pericardit... ORPHA:163596
Secondary Intestinal Lymphangiectasia
Anasarca, Constrictive pericarditis, Increased stool alpha1-antitrypsin concentration, Intussusce... ORPHA:90363
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Melorheostosis
Lymphedema, Skeletal muscle atrophy ORPHA:2485
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Chylous Ascites
Lymphedema, Abnormal intestine morphology, Ascites ORPHA:1160
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:619003
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Camptodactyly, Pericardial lymphangiectasia, Intestinal lymphangiectasia OMIM:616006
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Lymphatic Malformation 3
Lymphedema OMIM:613480
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Pedal edema, Ascites ORPHA:87876
Follicular Lymphoma
Splenomegaly, Pleural effusion, Lymphedema, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:545
German Syndrome
High palate, Tetralogy of Fallot, Lymphedema, Dysphagia, Arthrogryposis multiplex congenita, Camp... ORPHA:2077
Lymphatic Malformation 6
Chylothorax, Webbed neck, Intestinal lymphangiectasia, Atrial septal defect, Nonimmune hydrops fe... OMIM:616843
Neuraminidase Deficiency
Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Cardiomyopathy, Ascites, Cardiomegaly, Fa... OMIM:256550
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Angioedema, Hereditary, 1
Pharyngeal edema, Angioedema, Periorbital edema, Intestinal edema, Laryngeal edema OMIM:106100
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema, Gastroesophageal reflux ORPHA:3137
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atria... ORPHA:90308
Lymphedema, Primary, With Myelodysplasia
Webbed neck, Lymphedema OMIM:614038
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis, Dysphagia ORPHA:477774
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Lymphatic Malformation 2
Lymphedema OMIM:611944
Meige Disease
Peripheral edema, Absence of lymph node germinal center, Pleural effusion, Predominantly lower li... ORPHA:90186
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hydrops fetalis, Microglossia, Ascites, Cardi... OMIM:253250
Achondrogenesis, Type Ib
Hydrops fetalis, Breech presentation, Polyhydramnios, Edema, Stillbirth OMIM:600972
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Flexion contracture, Predominantly lower limb lymphedema, Congestive hea... ORPHA:261519
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Flexion contracture, Portal hypertension, Hepatosplenomegaly, Skeletal mu... ORPHA:367
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly, Malabsorption OMIM:214900
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Pleural effusion,... OMIM:616897
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema, Facial edema OMIM:618154
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Transient ischemic attack, Lymphedem... OMIM:301500
Lissencephaly 2
Lymphedema OMIM:257320
Chondrodysplasia, Blomstrand Type
Hydrops fetalis, Polyhydramnios, Premature birth, Stillbirth OMIM:215045
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, L... OMIM:153400
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Narrow palate, Hydrops fetalis, Fetal akinesia sequence, Ventricul... OMIM:617022
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Splenomegaly, Hamartomatous polyposis, Lymphedema, Furr... ORPHA:2930
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema, Palmar telangiec... OMIM:607823
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Arrhythmia, Congestive heart failure, Hydrops fetalis, Pr... OMIM:609015
Capillary Malformation-Arteriovenous Malformation
Chylothorax, High-output congestive heart failure, Congestive heart failure, Nonimmune hydrops fe... ORPHA:137667
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Pleural effusion, Decreased fetal movement, Polyhydram... ORPHA:292
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Buschke-Ollendorff Syndrome
Generalized limb muscle atrophy, Lymphedema, Flexion contracture, Hypertension ORPHA:1306
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Hypoplastic spleen, Endocardial fibroelastosis, Nonimmune hydrops fetal... OMIM:619313
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Greenberg Dysplasia
Lymphedema, Preeclampsia ORPHA:1426
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphedema, Lymphadenopathy, Intracranial hemorrhage ORPHA:3226
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Plantar telangiectasia, Pleural effusion, Predominantly lower limb lymphedema, P... ORPHA:69735
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Noonan Syndrome 13
Webbed neck, High palate, Atrial septal defect, Gastroesophageal reflux, Lymphedema, Mitral regur... OMIM:619087
Free Sialic Acid Storage Disease
Hydrops fetalis, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Ascites ORPHA:834
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Kaposi Sarcoma
Lymphedema, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality o... ORPHA:33276
Monosomy 18P
Webbed neck, Lymphedema, Hypertension, Cleft palate ORPHA:1598
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse OMIM:247410
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cinca Syndrome
Eosinophilia, Lymphedema, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Premature birth OMIM:618838
Lymphatic Malformation 4
Lymphedema OMIM:615907
Cholestasis-Lymphedema Syndrome
Lymphedema, Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly ORPHA:1414
Trisomy 1Q
Patent ductus arteriosus, Hydrops fetalis, Congenital diaphragmatic hernia, Anal atresia, Polyhyd... ORPHA:261344
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Malabsorption ORPHA:1116
Mosaic Trisomy 9
Webbed neck, High palate, Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial ... ORPHA:99776
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hydrops fetali... OMIM:230500
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Splenomegaly, Thickened nuchal skin fold, Polyhydramnios, Lymphedema, Ventricular se... OMIM:235255
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Mitral valve prolapse ORPHA:1563
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Genital edema, Pedal edema, Edema of the dorsum of hands, Fa... ORPHA:568051
Alg8-Cdg
Abnormality of the gastrointestinal tract, Hydrops fetalis, Macroglossia, Edema, Ascites, Prematu... ORPHA:79325
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema OMIM:153100
Alpha-Thalassemia
Hydrops fetalis, Hypersplenism, Splenomegaly ORPHA:846
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Achondrogenesis, Type Ii
Hydrops fetalis, Polyhydramnios, Edema, Cleft palate, Stillbirth OMIM:200610
Gm1 Gangliosidosis
Hepatosplenomegaly, Patent ductus arteriosus, Congestive heart failure, Hydrops fetalis, Gastroes... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Lymphedema, Malabsorption,... ORPHA:2176
Lymphatic Malformation 10
Lymphedema OMIM:619369
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Atrial septal defect, Pleural effusion, Rectal prolapse, Lymphedema,... OMIM:235510
Lymphatic Malformation 5
Facial edema, Cleft palate, Predominantly lower limb lymphedema OMIM:153200
Takenouchi-Kosaki Syndrome
Webbed neck, Patent ductus arteriosus, Pulmonic stenosis, Lymphedema, Camptodactyly, Abnormal car... OMIM:616737
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios, Hepatocellular necrosis OMIM:231100
Trisomy 13
Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis, High, narrow palate, Ventricular... ORPHA:3378
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Muscular dystrophy, Cardiomyopathy, Hepatocellular carcinoma ORPHA:88618
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Splenomegaly OMIM:224120
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, High palate, Patent foramen ovale, Patent ductus arteriosus, Predominantly lo... ORPHA:293939
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Telangiectasia of the skin, Lymphedema, Ca... ORPHA:79280
Cerebrofacioarticular Syndrome
Anal stenosis, Pulmonic stenosis, Abnormal heart morphology, Lymphedema, Anteriorly placed anus, ... ORPHA:314679
Milroy Disease
Lymphedema, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Familial Exudative Vitreoretinopathy
Retinal neovascularization, Lymphedema, Vitreous hemorrhage, Macular edema, Macular telangiectasia ORPHA:891
Campomelia, Cumming Type
Lymphedema, Polysplenia OMIM:211890
Ring Chromosome 22 Syndrome
Lymphedema, Edema, Protruding tongue, Pleural effusion ORPHA:1446
Campomelia, Cumming Type
Hydrops fetalis, Lymphedema, Abnormal intestine morphology, Oligohydramnios, Cleft palate ORPHA:1318
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Achalasia, Mucosal telangiectasi... ORPHA:324
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Skeletal muscle atrophy, Hamartomatous polyposis, Lymphedema, Myopathy, Abnormal l... ORPHA:109
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased fetal movement, Polyhydramnios, Ventri... OMIM:607598
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Nonimmune hydrops fetalis, Splenomegaly, Decreased fetal movement, Desquamati... OMIM:608013
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Splenomegaly, Ascites ORPHA:584
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly ORPHA:766
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema OMIM:152950
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Flexion contracture, Hydrops fetalis, Splenomegaly, Macroglossia... OMIM:253220
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Lower limb muscle weakness, Generalized limb muscle atrophy, Lymphedema,... ORPHA:2822
Noonan Syndrome
Abnormal pulmonary valve morphology, Webbed neck, High palate, Arrhythmia, Thickened nuchal skin ... ORPHA:648
Cardiofaciocutaneous Syndrome
Webbed neck, High palate, Abnormality of the gastrointestinal tract, Abnormal heart valve morphol... ORPHA:1340
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Yellow Nail Syndrome
Pulmonary arterial hypertension, Lymphedema, Biliary tract neoplasm ORPHA:662
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Chylothorax, Webbed neck, Lymphedema, Polyhydramnios, Bicuspid aortic valve, Mitral regurgitation... OMIM:613563
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Nonimmune hydrops fetalis, Premature birth, Th... OMIM:166210
Phelan-Mcdermid Syndrome
High palate, Patent ductus arteriosus, Gastroesophageal reflux, Palpebral edema, Lymphedema, Vent... OMIM:606232
Chromomycosis
Lymphedema, Edema, Predominantly lower limb lymphedema ORPHA:182
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Pleural effusion, Palpebral edema, Chylous ascites, Polyh... OMIM:265300
Oculoectodermal Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Lymphedema, Transien... OMIM:600268
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Lymphedema, Facial telangiectasia in butterfly midface distribution, Telangiecta... OMIM:137940
Hennekam Syndrome
Chylothorax, Hydrops fetalis, Splenomegaly, Lymphedema, Lymphadenopathy, Pyloric stenosis, Ascite... ORPHA:2136
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex congenita, Hypoplasia of the mu... OMIM:253310
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis, Camptodactyly, Cleft palate, Joint contracture... OMIM:228520
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hepatosplenomegaly, Hydrops fetalis, Macroglossia, Cardiomyopathy ORPHA:79255
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Hydrops fetalis, Abnormal heart morphology, Single umbilical artery, Increas... ORPHA:1865
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Splenomegaly, M... ORPHA:77261
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate OMIM:616738
Lymphedema-Distichiasis Syndrome
Webbed neck, Arrhythmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, Cleft palate ORPHA:33001
Mgat2-Cdg
Arrhythmia, Patent ductus arteriosus, Hydrops fetalis, Gastroesophageal reflux, Abnormal heart mo... ORPHA:79329
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Polyhydramnios, Cleft palate OMIM:616546
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Webbed neck, Flexion contracture, Total anomalous pulmonary venous return, Patent ductus arterios... ORPHA:487796
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Patent ductus arteriosus, Aortic regur... OMIM:616501
Farber Disease
Flexion contracture, Hepatosplenomegaly, Skeletal muscle atrophy, Hydrops fetalis, Lymphadenopath... ORPHA:333
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hydrops fetalis, Hypertrophic cardiomyopathy, Splenomegaly OMIM:613673
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios, Cleft palate ORPHA:85166
Alg9-Cdg
Right ventricular dilatation, Bifid uvula, Atrial septal defect, Hydrops fetalis, Gastroesophagea... ORPHA:79328
Lymphangioleiomyomatosis
Chylothorax, Gastrointestinal hemorrhage, Lymphedema, Lymphadenopathy, Ascites, Chylopericardium ORPHA:538
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid... OMIM:212065
Achondrogenesis, Type Ia
Hydrops fetalis, Polyhydramnios, Stillbirth OMIM:200600
Galactosialidosis
Nonimmune hydrops fetalis, Hepatosplenomegaly, Conjunctival telangiectasia OMIM:256540
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Tricuspid valve prolap... ORPHA:2346
American Trypanosomiasis
Achalasia, Arrhythmia, Congestive heart failure, Myocarditis, Splenomegaly, Aganglionic megacolon... ORPHA:3386
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Multiple joint contractures, Flexion contracture, Atrial septal ... ORPHA:536471
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Cranioectodermal Dysplasia 2
High palate, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Hydrops fetali... OMIM:613610
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Tracheoesophageal fistula, Ventricular septal defect, Congenital diaphragmatic h... ORPHA:268249
Pyruvate Kinase Deficiency Of Red Cells
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Splenomegaly OMIM:266200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Hydrops fetalis, Short uvula, Ascites, Cleft palate OMIM:614091
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, Intestinal malrotation, Hamartoma of tongue, Microglossia,... OMIM:263520
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Klippel-Trenaunay-Weber Syndrome
Lymphedema OMIM:149000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hydrops fetalis, Pulmonary embolism, Pulmonary arterial hypertension, Abn... ORPHA:79282
Noonan Syndrome 1
Chylothorax, Webbed neck, High palate, Patent ductus arteriosus, Atrial septal defect, Hypertroph... OMIM:163950
Pearson Syndrome
Hypoplastic spleen, Bone marrow hypocellularity, Hydrops fetalis, Splenomegaly, Corneal stromal e... ORPHA:699
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Greenberg Dysplasia
Hepatosplenomegaly, Bone marrow hypocellularity, Toxemia of pregnancy, Hydrops fetalis, Nonimmune... OMIM:215140
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Weak pulse, Myocardial calcification, Retinal hemorrhage, ... ORPHA:51608
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Predominantly lower limb lymphedema, Lymphedema, Lymphadenopathy ORPHA:2035
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Clapo Syndrome
Lymphedema ORPHA:168984
Gaucher Disease
Abnormal myocardium morphology, Abnormal heart valve morphology, Abnormal pericardium morphology,... ORPHA:355
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Hydrops fetalis, Polyhydramnios, Premature birth, Edema OMIM:602522
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Atrial septal defect, Pleural effusion, Lymphedema, Edema ORPHA:2526
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
High palate, Flexion contracture, Atrial septal defect, Hydrops fetalis, Polyhydramnios OMIM:300868
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Hydrops fetalis, Colitis, Splenomegaly, Chronic noninf... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Skeletal muscle atrophy, Splenomegaly, Lymphadenopathy, Edema OMIM:619183
Melkersson-Rosenthal Syndrome
Macroglossia, Periorbital edema, Furrowed tongue, Lymphadenopathy, Facial palsy, Edema ORPHA:2483
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal angiodysplasia, Webbed neck, High palate, Gastrointestinal inflammation, Atrial ... ORPHA:99413
Turner Syndrome
Gastrointestinal angiodysplasia, Webbed neck, High palate, Gastrointestinal inflammation, Atrial ... ORPHA:881
Mosaic Monosomy X
Gastrointestinal angiodysplasia, Webbed neck, High palate, Gastrointestinal inflammation, Atrial ... ORPHA:99228
Monosomy X
Gastrointestinal angiodysplasia, Webbed neck, High palate, Gastrointestinal inflammation, Atrial ... ORPHA:99226
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema OMIM:609242
Hereditary Elliptocytosis
Hydrops fetalis, Splenomegaly ORPHA:288
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Aarskog Syndrome, Autosomal Dominant
Flexion contracture, Anal atresia, Lymphedema, Rectoperineal fistula, Cleft palate OMIM:100050
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Blackfan-Diamond Anemia
Webbed neck, High palate, Atrial septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Abn... ORPHA:124
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Hydrops fetalis, High, narrow palate, Pulmonary arteri... ORPHA:3472
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Malabsorption, Villous atrophy, Dehydration, Steatorrhea OMIM:557000
Niemann-Pick Disease Type C
Hepatosplenomegaly, Hydrops fetalis, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:646
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema, Cleft palate ORPHA:3144
Phocomelia, Schinzel Type
Hydrops fetalis, Tracheoesophageal fistula, Anal atresia, High, narrow palate, Cleft palate ORPHA:2879
Proteus Syndrome
Pulmonary embolism, Sudden cardiac death, Splenomegaly, Thymus hyperplasia, Lymphedema, Decreased... ORPHA:744
Blomstrand Lethal Chondrodysplasia
Hydrops fetalis, Polyhydramnios, Premature birth, Protruding tongue ORPHA:50945
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amniotic fluid, Increased fecal porph... ORPHA:95159
Monosomy 22Q13.3
Gastroesophageal reflux, Lymphedema, Palpebral edema ORPHA:48652
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Splenomegaly, Increased fecal coproporphyrin 1, Abnormality of the amn... ORPHA:79277
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Pmm2-Cdg
Anasarca, High palate, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Peri... ORPHA:79318
Yunis-Varon Syndrome
High palate, Tetralogy of Fallot, Patent foramen ovale, Hydrops fetalis, Pulmonary arterial hyper... OMIM:216340
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Submucous cleft soft palate, Left ventricular noncompaction, Patent foramen ovale, Patent ductus ... OMIM:300967
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Hydrops fetalis, Esophageal atresia, Anal atresia, Bifid tongue ORPHA:93271
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Abnormal left ventricular function, Sudden cardiac death, Myocardial ... 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
Calcrltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Calcrltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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