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Gene: Calcrl MGI:1926944

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, 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
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... ORPHA:1041
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... OMIM:619462
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Decreased fetal movement, Edema, Portal hypertension, Polyhydramnios, Es... OMIM:232500
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnormality of the ... OMIM:608540
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... OMIM:618815
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Angioedema, Hereditary, 3
Facial edema, Angioedema, Intestinal edema, Pharyngeal edema OMIM:610618
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Lymphedema, Telangiectasia, Generalized amyotrophy, Hypertrophic card... ORPHA:79279
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly, Atrial sep... ORPHA:101028
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, Chylopericardiu... ORPHA:2414
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Decreased fetal movement, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Hereditary Angioedema Type 1
Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of hands, Facial edema, Abn... ORPHA:100050
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar... ORPHA:3405
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, High pala... OMIM:269920
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Abnormality of the spleen, Splenomegaly, Flexi... ORPHA:85212
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Arthrogryposis multiplex congenita, Lymphedema OMIM:616342
Chylous Ascites
Ascites, Abnormal intestine morphology, Lymphedema ORPHA:1160
Follicular Lymphoma
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion ORPHA:545
Lymphatic Malformation 3
Lymphedema OMIM:613480
Melorheostosis
Skeletal muscle atrophy, Lymphedema ORPHA:2485
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Intestinal lymphangiectasia, Pericardial lymphangiectasia, Camptodactyly OMIM:616006
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Sialidosis Type 2
Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopath... OMIM:256550
German Syndrome
Camptodactyly of finger, Lymphedema, Abnormal cardiac septum morphology, High palate, Dysphagia, ... ORPHA:2077
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetalis, Oligohydra... ORPHA:163596
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema OMIM:106100
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis, Dysphagia ORPHA:477774
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Patent ductus a... ORPHA:90308
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal ak... ORPHA:367
Lymphatic Malformation 2
Lymphedema OMIM:611944
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Flexion contracture, Predominantly lower limb lymphedema, Camptodactyly... ORPHA:261519
Mulibrey Nanism
Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Pericardial constri... OMIM:253250
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr... OMIM:620244
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cholestasis-Lymphedema Syndrome
Splenomegaly, Malabsorption, Lymphedema OMIM:214900
Lymphedema, Primary, With Myelodysplasia
Webbed neck, Lymphedema OMIM:614038
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Cl... OMIM:616897
Lissencephaly 2
Lymphedema OMIM:257320
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios ORPHA:1263
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Cronkhite-Canada Syndrome
Intestinal polyposis, Lymphedema, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous pol... ORPHA:2930
Free Sialic Acid Storage Disease
Splenomegaly, Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:834
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Lymphatic Malformation 4
Pedal edema, Lymphedema OMIM:615907
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the limbs, Lymphedema, Hi... ORPHA:137667
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, B lymphocytopenia, End... OMIM:619313
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage, Bone marrow hypocellularity ORPHA:3226
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Abno... OMIM:609015
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Lymphedema, Splenomegaly, Acholic stools ORPHA:1414
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... OMIM:617022
Noonan Syndrome 13
Lymphedema, Mitral valve prolapse, Mitral regurgitation, High palate, Gastroesophageal reflux, We... OMIM:619087
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... OMIM:620167
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse OMIM:247410
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Palmar telangiec... OMIM:607823
Monosomy 18P
Hypertension, Webbed neck, Cleft palate, Lymphedema ORPHA:1598
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lymphadenopathy... ORPHA:33276
Cinca Syndrome
Hepatosplenomegaly, Eosinophilia, Lymphadenopathy, Lymphedema OMIM:607115
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Greenberg Dysplasia
Lymphedema ORPHA:1426
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Polyhydramnios, Lymphedema OMIM:618154
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphedema ORPHA:1116
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Mitral valve prolapse ORPHA:1563
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Lymphedema, Splenomegaly, ... OMIM:235255
Lymphatic Malformation 10
Lymphedema OMIM:619369
Alg8-Cdg
Abnormality of the gastrointestinal tract, Premature birth, Edema, Hydrops fetalis, Macroglossia,... ORPHA:79325
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Camptodactyly of finger... ORPHA:99776
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... ORPHA:568051
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, ... OMIM:230500
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Hig... ORPHA:293939
Takenouchi-Kosaki Syndrome
Lymphedema, Patent ductus arteriosus, Webbed neck, Abnormal cardiac septum morphology, Pulmonic s... OMIM:616737
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Hydrops fetalis ORPHA:846
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, L... ORPHA:2176
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Premature birth, Congestive heart failure, Pa... ORPHA:354
Cerebrofacioarticular Syndrome
Anal stenosis, Lymphedema, Abnormal heart morphology, Anteriorly placed anus, Pulmonic stenosis, ... ORPHA:314679
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Muscular dystrophy, Hydrops fetalis, Hepatocellular carcinoma ORPHA:88618
Ring Chromosome 22 Syndrome
Pleural effusion, Protruding tongue, Edema, Lymphedema ORPHA:1446
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Campomelia, Cumming Type
Lymphedema, Hydrops fetalis, Cleft palate, Abnormal intestine morphology, Oligohydramnios ORPHA:1318
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis, Hepatocellular necrosis OMIM:231100
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Abnormal large intestine morpholo... ORPHA:109
Trisomy 13
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Hydrops fetalis, Cleft ... ORPHA:3378
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Premature birth, Lymp... ORPHA:1340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... OMIM:137940
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal defect, Edema, Polyhydramni... OMIM:607598
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... OMIM:265380
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Noonan Syndrome
Thickened nuchal skin fold, Abnormal pulmonary valve morphology, Lymphedema, Abnormality of the s... ORPHA:648
Yellow Nail Syndrome
Biliary tract neoplasm, Pulmonary arterial hypertension, Lymphedema ORPHA:662
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Lymphedema, Generalized limb muscle atrophy, Distal amyotrophy, Dysphagi... ORPHA:2822
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Hydrops fetalis, Cleft palate, Abnormal heart morphology, Single umbilical a... ORPHA:1865
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Hydrops fetalis ORPHA:766
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regur... OMIM:613563
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma, Lymphedema ORPHA:2874
Achondrogenesis, Type Ii
Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth OMIM:200610
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis, Cleft palate OMIM:618265
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema ORPHA:182
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Malabsorption, Pyloric stenosis, Splen... ORPHA:2136
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Gastroesophagea... OMIM:606232
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis, Congestive heart failure, Thin skin, Pulmonary insuff... OMIM:166210
Spondyloocular Syndrome
Duodenal ulcer, Lymphedema, Mitral valve prolapse, Webbed neck, Atrial septal defect, Dysplastic ... OMIM:605822
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Abnormality of the amniotic fluid,... OMIM:253310
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Decreased fetal movement, Limb joint contracture, Shoulder fle... OMIM:620369
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture, Hydrops feta... OMIM:253220
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Abnormal placenta morphology ORPHA:79255
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate OMIM:616738
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Fibrochondrogenesis 1
Hydrops fetalis, Cleft palate, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent f... OMIM:228520
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Atrial septal defect, Hypertroph... OMIM:600268
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Patent ductus arteriosus, Cleft palate, Webbed neck, Arrhythmia ORPHA:33001
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Lymphedema, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Webbed neck... ORPHA:487796
Farber Disease
Skeletal muscle atrophy, Flexion contracture, Hydrops fetalis, Hepatosplenomegaly, Lymphadenopath... ORPHA:333
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion co... OMIM:212065
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Lymphadenopathy, Chylothorax, Ascites ORPHA:538
Anemia, Congenital Dyserythropoietic, Type Iv
Splenomegaly, Hypertrophic cardiomyopathy, Hydrops fetalis, Hepatosplenomegaly OMIM:613673
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho... ORPHA:536471
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Tricuspid regurgitation, Ventr... ORPHA:79328
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Hydrops fetalis, Polyhydramnios ORPHA:85166
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... OMIM:300855
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
American Trypanosomiasis
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomeg... ORPHA:3386
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract... OMIM:208150
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic h... ORPHA:268249
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hamartoma of tongue, Congenital diaphragmatic hernia, Hydrops fetalis, Cleft pala... OMIM:616546
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, High, narrow palate, Patent ductus arteriosus, Cleft palat... 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
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... OMIM:265000
Achondrogenesis, Type Ia
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Ab... OMIM:200600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hydrops fetalis, Cleft palate, High palate, Ascites OMIM:614091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, ... OMIM:263520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus ... OMIM:300868
Pearson Syndrome
Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Abnormal heart morpho... ORPHA:699
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Schneckenbecken Dysplasia
Cleft palate, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Klippel-Trenaunay-Weber Syndrome
Lymphedema OMIM:149000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Cranioectodermal Dysplasia 2
Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Cleft palate, Hypertensi... OMIM:613610
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Hypereosinophilia, Lymphadenopathy ORPHA:2035
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... OMIM:619167
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Clapo Syndrome
Lymphedema ORPHA:168984
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Thickened nuchal skin fold, Bicuspid aortic valve, Myocardial infarction, ... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Thickened nuchal skin fold, Bicuspid aortic valve, Myocardial infarction, ... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Thickened nuchal skin fold, Bicuspid aortic valve, Myocardial infarction, ... ORPHA:99228
Monosomy X
Prolonged QT interval, Thickened nuchal skin fold, Bicuspid aortic valve, Myocardial infarction, ... ORPHA:99226
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Autoimmune Lymphoproliferative Syndrome
Gastritis, Increased B cell count, Chronic noninfectious lymphadenopathy, Eosinophilia, Hypersple... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Edema, Splenomegaly, Flexion contracture, Lymphadenopathy OMIM:619183
Melkersson-Rosenthal Syndrome
Facial palsy, Edema, Periorbital edema, Furrowed tongue, Lymphadenopathy, Macroglossia ORPHA:2483
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hydrops fetalis OMIM:224120
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Nonimmune hydrops fetalis OMIM:266200
Kanzaki Disease
Lacunar stroke, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema OMIM:609242
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, High, narrow palate, Pyloric stenosis, I... ORPHA:3472
Hereditary Elliptocytosis
Splenomegaly, Hydrops fetalis ORPHA:288
Diamond-Blackfan Anemia
Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Abnormal heart morpholog... ORPHA:124
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Hydrops fetalis, Dehydration, Steatorrhea OMIM:557000
Schneckenbecken Dysplasia
Cleft palate, Polyhydramnios, Lymphedema ORPHA:3144
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Niemann-Pick Disease Type C
Fetal ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetali... ORPHA:646
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios, Protruding tongue ORPHA:50945
Proteus Syndrome
Decreased muscle mass, Thymus hyperplasia, Sudden cardiac death, Lymphedema, Pulmonary embolism, ... ORPHA:744
Phocomelia, Schinzel Type
High, narrow palate, Tracheoesophageal fistula, Hydrops fetalis, Cleft palate, Anal atresia ORPHA:2879
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Monosomy 22Q13.3
Gastroesophageal reflux, Palpebral edema, Lymphedema ORPHA:48652
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... ORPHA:263665
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic fluid, Increased feca... ORPHA:95159
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Edema, Increased stool urobilinogen concentration, Splenomegaly, Incre... ORPHA:79277
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... ORPHA:79318
Yunis-Varon Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Pyloric stenosis, Hydrops fetalis, He... OMIM:216340
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Hydrops fetalis, Ectopic anus, Bifid tongue, Anal atresia ORPHA:93271
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... 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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Suppression of CCL2 angiocrine function by adrenomedullin promotes tumor growth. The Journal of experimental medicine (November 2022) Calcrltm1c(KOMP)Wtsi PMC9665902
Disturbed flow-induced Gs-mediated signaling protects against endothelial inflammation and atherosclerosis. JCI insight (December 2020) Calcrltm1c(KOMP)Wtsi PMC7714404
Shear stress-induced endothelial adrenomedullin signaling regulates vascular tone and blood pressure. The Journal of clinical investigation (June 2019) Calcrltm1a(KOMP)Wtsi PMC6597232

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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