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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
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, 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
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Splenomegaly, Polyhydramnios, ... OMIM:619462
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Nonimmune hydrops fetalis, Joint contracture, Flexion contracture, ... OMIM:608540
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... OMIM:618815
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Edema, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension,... OMIM:232500
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Angioedema, Hereditary, 3
Facial edema, Intestinal edema, Pharyngeal edema, Angioedema OMIM:610618
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effu... ORPHA:2414
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Atrial septal defect, Hydrops feta... ORPHA:101028
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hypertrophic cardiomyopathy, Telangiectasia, Telangiectasia of the skin, Generalized ... ORPHA:79279
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Single umbili... ORPHA:3405
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Hereditary Angioedema Type 1
Facial edema, Hypotension, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestina... ORPHA:100050
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, High palate, Hydrops fetalis, Prem... OMIM:269920
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:619003
Fetal Gaucher Disease
Stillbirth, Abnormality of the spleen, Splenomegaly, Decreased fetal movement, Intracranial hemor... ORPHA:85212
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Arthrogryposis multiplex congenita, Lymphedema OMIM:616342
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ventricular failure,... ORPHA:90363
Chylous Ascites
Ascites, Abnormal intestine morphology, Lymphedema ORPHA:1160
Lymphatic Malformation 3
Lymphedema OMIM:613480
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:545
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Lymphatic Malformation 6
Facial edema, Generalized edema, Webbed neck, Gastroesophageal reflux, Chylothorax, Lymphedema, A... OMIM:616843
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal edema ORPHA:87876
German Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Lymphedema, Dysphagia, Abnormal cardiac septum morp... ORPHA:2077
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema OMIM:616006
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hydro... OMIM:256550
Melorheostosis
Skeletal muscle atrophy, Lymphedema ORPHA:2485
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Splenomegaly, Polyhydramnios, Hydrops fetalis, Pericar... ORPHA:163596
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux, Lymphedema ORPHA:3137
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Cardiomegaly, Bicuspid aortic valve, Perica... OMIM:239850
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Angioedema, Hereditary, 1
Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema OMIM:106100
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Combined Oxidative Phosphorylation Defect Type 27
Dysphagia, Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... ORPHA:90308
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... ORPHA:367
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Noni... OMIM:620244
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Flexion contracture, Congestive heart failure, Camptodactyly... ORPHA:261519
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... ORPHA:90186
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Mulibrey Nanism
Microglossia, Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hydrops ... OMIM:253250
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Splenomegaly ORPHA:2204
Lymphedema, Primary, With Myelodysplasia
Webbed neck, Lymphedema OMIM:614038
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, C... OMIM:616897
Lissencephaly 2
Lymphedema OMIM:257320
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Achondrogenesis, Type Ib
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:1263
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Chylothorax, Lymphedema, Tetralogy of Fallot, N... OMIM:153400
Fabry Disease
Lymphedema, Congestive heart failure, Transient ischemic attack, Ventricular septal hypertrophy, ... OMIM:301500
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:834
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Lymphatic Malformation 4
Pedal edema, Lymphedema OMIM:615907
Cholestasis-Lymphedema Syndrome
Splenomegaly, Lymphedema OMIM:214900
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth ORPHA:2123
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Lymphedema, Abnormal heart morphology, Congestive heart failure, Cerebral... ORPHA:137667
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Lymphedema, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sp... ORPHA:2930
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Hypoplasia of ... OMIM:619313
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage ORPHA:3226
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Lymphedema, Portal hypertension, Splenomegaly, Acholic stools ORPHA:1414
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia, Hydrops f... OMIM:609015
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
Congenital Enterovirus Infection
Fetal ascites, Hypotension, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec... ORPHA:292
Congenital Disorder Of Glycosylation, Type Il
Ascites, Villous atrophy, Fetal skin edema, Splenomegaly, Decreased fetal movement, Atrial septal... OMIM:608776
Noonan Syndrome 13
Webbed neck, Gastroesophageal reflux, Lymphedema, Mitral regurgitation, Mitral valve prolapse, At... OMIM:619087
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Nonimmune hydrops fetalis, Palpebral ... OMIM:607823
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow palate, Oligohydramnios, Ventricular septa... OMIM:617022
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fet... OMIM:620167
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse, Lymphedema OMIM:247410
Greenberg Dysplasia
Lymphedema ORPHA:1426
Monosomy 18P
Webbed neck, Hypertension, Cleft palate, Lymphedema ORPHA:1598
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy... ORPHA:33276
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Nonim... OMIM:617021
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Protein-losing enteropathy, Lymphedema OMIM:618154
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Lymphedema OMIM:607115
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, Pleural effusion,... ORPHA:846
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Protein-losing enteropathy, Narrow palate, Lymp... OMIM:235510
Lymphatic Malformation 10
Lymphedema OMIM:619369
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Lymphedema, Ascites, Splenomegaly, Ventricular septal defect, Thicken... OMIM:235255
Trisomy 1Q
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... ORPHA:261344
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse, Lymphedema ORPHA:1563
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Mosaic Trisomy 9
Webbed neck, Camptodactyly of finger, Abnormal heart valve morphology, Intestinal malrotation, En... ORPHA:99776
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Edema of the dorsum of hands, P... ORPHA:568051
Alg8-Cdg
Ascites, Oligohydramnios, Abnormality of the gastrointestinal tract, Camptodactyly, Macroglossia,... ORPHA:79325
Takenouchi-Kosaki Syndrome
Webbed neck, Lymphedema, Abnormal cardiac septum morphology, Camptodactyly, Patent ductus arterio... OMIM:616737
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Upper eyelid edema, Patent foramen ovale, High pa... ORPHA:293939
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip tela... ORPHA:79280
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Gm1 Gangliosidosis
Gastroesophageal reflux, Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Cong... ORPHA:354
Cerebrofacioarticular Syndrome
Anal stenosis, Anteriorly placed anus, Lymphedema, Abnormal heart morphology, Camptodactyly, Pulm... ORPHA:314679
Ring Chromosome 22 Syndrome
Pleural effusion, Protruding tongue, Edema, Lymphedema ORPHA:1446
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Tricu... OMIM:212093
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Hydrops fetalis, Cardiomyopathy, Hepatocellular carcinoma ORPHA:88618
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Campomelia, Cumming Type
Lymphedema, Oligohydramnios, Abnormal intestine morphology, Hydrops fetalis, Cleft palate ORPHA:1318
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Skeletal muscle atrophy, Lymphedema, Intestinal polyposis, I... ORPHA:109
Infantile Systemic Hyalinosis
Lymphedema, Camptodactyly of finger, Abnormality of the gastrointestinal tract, Telangiectasia of... ORPHA:2176
Trisomy 13
High, narrow palate, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Patent duc... ORPHA:3378
Cardiofaciocutaneous Syndrome
Webbed neck, Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Functional... ORPHA:1340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s... OMIM:137940
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema ORPHA:584
Fabry Disease
Atrioventricular block, Lymphedema, Hypertrophic cardiomyopathy, Bundle branch block, Transient i... ORPHA:324
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal def... OMIM:607598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Yellow Nail Syndrome
Biliary tract neoplasm, Pulmonary arterial hypertension, Lymphedema ORPHA:662
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Tenosynovial Giant Cell Tumor
Joint hemorrhage, Joint swelling, Lymphedema ORPHA:66627
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Abnormal heart morphology, Single umbilical artery, Flexion contra... ORPHA:1865
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Webbed neck, Chylothorax, Lymphedema, Hepatosplenomegaly, Splenomegaly, Mi... OMIM:613563
Phakomatosis Pigmentokeratotica
Arrhythmia, Rhabdomyosarcoma, Raynaud phenomenon, Lymphedema ORPHA:2874
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased fetal... OMIM:608013
Autosomal Recessive Spastic Paraplegia Type 11
Distal amyotrophy, Lower limb muscle weakness, Lymphedema, Generalized limb muscle atrophy, Ortho... ORPHA:2822
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly ORPHA:766
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Hydrops fetalis, Cleft palate OMIM:616738
Noonan Syndrome
Webbed neck, Lymphedema, Hypertrophic cardiomyopathy, Abnormality of the spleen, Abnormal EKG, Ab... ORPHA:648
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema ORPHA:182
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Cleft palate, Nonimmune hydrops fetalis OMIM:618265
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Hydrops fetalis, Cleft palate, Edema OMIM:200610
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Lymphedema, Ventricular septal defect, Palpebral edema, High palate, Pat... OMIM:606232
Osteogenesis Imperfecta, Type Ii
Premature birth, Congestive heart failure, Nonimmune hydrops fetalis, Pulmonary insufficiency, Th... OMIM:166210
Spondyloocular Syndrome
Webbed neck, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Du... OMIM:605822
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... OMIM:253310
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Pericar... ORPHA:2136
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexion contracture, Ascites, ... OMIM:620369
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Macroglossia, Fle... OMIM:253220
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hepatosplenomegaly, Abnormal placenta morphology, Macroglossia, Hydrops fetalis ORPHA:79255
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Fibrochondrogenesis 1
Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis, ... OMIM:228520
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Arrhythmia, Patent ductus arteriosus, Cleft palate ORPHA:33001
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Webbed neck, Total anomalous pulmonary venous return, Lymphedema, Abnormal heart morphology, Camp... ORPHA:487796
Oculoectodermal Syndrome
Lymphedema, Hypertrophic cardiomyopathy, Transient ischemic attack, Atrial septal defect, Patent ... OMIM:600268
Mgat2-Cdg
Gastroesophageal reflux, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrop... ORPHA:79329
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Lymphadenopathy, Chylopericardium ORPHA:538
Noonan Syndrome 2
Webbed neck, Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increase... OMIM:605275
Farber Disease
Skeletal muscle atrophy, Ascites, Hepatosplenomegaly, Joint swelling, Lymphadenopathy, Flexion co... ORPHA:333
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Steatorrhea, Villous atrophy, Nonimmune hydrops fetalis, Pericardial effusion, Fl... OMIM:212065
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Mitral valve calcifica... ORPHA:77261
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Lymphedema, Abnormal heart valve morphology, Elbow flexion contracture, Mu... ORPHA:536471
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hydrops fetalis, Splenomegaly OMIM:613673
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Arrhythmia... OMIM:300855
Alg9-Cdg
Bifid uvula, Hypoplasia of the musculature, Gastroesophageal reflux, Thickened nuchal skin fold, ... ORPHA:79328
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Cleft palate ORPHA:85166
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Aganglionic megacolon,... ORPHA:3386
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Nonimmune hydrops fetalis OMIM:256540
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Congenital contracture, Premature birth, Decreased muscle mass, Camptodactyl... OMIM:208150
Congenital Syphilis
Hepatosplenomegaly, Large placenta, Lymphadenopathy, Myocarditis, High palate, Hydrops fetalis, P... ORPHA:499009
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal d... ORPHA:268249
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Congenital diaphragmatic hernia, Atrial septal defect, Polyhydramnios, Hydro... OMIM:616546
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Tricuspid regurgitation, Splenic cyst, Patent foramen ovale, Intracranial hemorrha... OMIM:620371
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Knee flexion contracture, Multiple joint contractures, Camptodac... OMIM:265000
Noonan Syndrome 1
High, narrow palate, Webbed neck, Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Ventricul... OMIM:163950
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Ascites, High palate, Hydrops fetalis, Cleft palate OMIM:614091
Achondrogenesis, Type Ia
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Protruding tongue, ... OMIM:200600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Microglossia, Hamartoma of tongue, Intestinal malrotation, Tricuspid regurgitation, Ventricular s... OMIM:263520
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Schneckenbecken Dysplasia
Polyhydramnios, Stillbirth, Cleft palate, Nonimmune hydrops fetalis OMIM:269250
Pearson Syndrome
Bone marrow hypocellularity, Cardiomyopathy, Abnormal heart morphology, Median cleft palate, Sple... ORPHA:699
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Lymphadenopathy ORPHA:2035
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Bilateral f... OMIM:300868
Klippel-Trenaunay-Weber Syndrome
Lymphedema OMIM:149000
Cranioectodermal Dysplasia 2
Polysplenia, Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defe... OMIM:613610
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo... ORPHA:79282
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Lymphedema, Pleural effusion, Atrial septal defect, Edema ORPHA:2526
Greenberg Dysplasia
Bone marrow hypocellularity, Hepatosplenomegaly, Increased nuchal translucency, Large placenta, N... OMIM:215140
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Small vessel vasculitis, Periorbital e... OMIM:620376
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Fetal distress, Ascites, Left ventricular systolic dysfunction, Transien... ORPHA:51608
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Clapo Syndrome
Lymphedema ORPHA:168984
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Webbed neck, Ly... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Webbed neck, Ly... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Webbed neck, Ly... ORPHA:99228
Monosomy X
Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Webbed neck, Ly... ORPHA:99226
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Splenomegaly, Myositis, Lymphadenopathy, Flexion contracture, Edema OMIM:619183
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... OMIM:617667
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Nonimmune hydrops fetalis OMIM:266200
Kanzaki Disease
Lip telangiectasia, Lacunar stroke, Telangiectasia of the oral mucosa, Lymphedema OMIM:609242
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Splenomegaly OMIM:224120
Gaucher Disease
Aortic valve calcification, Splenic infarction, Abnormal pericardium morphology, Abnormal heart v... ORPHA:355
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Vasculitis, Hypersplenism, Chronic noninfectious lymphadenopathy, Sp... ORPHA:3261
Melkersson-Rosenthal Syndrome
Furrowed tongue, Lymphadenopathy, Periorbital edema, Macroglossia, Facial palsy, Edema ORPHA:2483
Yunis-Varon Syndrome
High, narrow palate, Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Renovasc... ORPHA:3472
Diamond-Blackfan Anemia
Webbed neck, Abnormality of the thenar eminence, Abnormal heart morphology, Cleft soft palate, Ve... ORPHA:124
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Schneckenbecken Dysplasia
Polyhydramnios, Cleft palate, Lymphedema ORPHA:3144
Hereditary Elliptocytosis
Hydrops fetalis, Splenomegaly ORPHA:288
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wal... ORPHA:646
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Villous atrophy, Hydrops fetalis, Dehydration OMIM:557000
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Protruding tongue, Premature birth ORPHA:50945
Phocomelia, Schinzel Type
High, narrow palate, Tracheoesophageal fistula, Anal atresia, Hydrops fetalis, Cleft palate ORPHA:2879
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Proteus Syndrome
Thymus hyperplasia, Pulmonary embolism, Decreased muscle mass, Lymphedema, Myofibrillar myopathy,... ORPHA:744
Monosomy 22Q13.3
Palpebral edema, Gastroesophageal reflux, Lymphedema ORPHA:48652
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Hepatoerythropoietic Porphyria
Splenomegaly, Nonimmune hydrops fetalis, Increased fecal porphyrin, Abnormality of the amniotic f... ORPHA:95159
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Congenital Erythropoietic Porphyria
Increased stool urobilinogen concentration, Splenomegaly, Nonimmune hydrops fetalis, Increased fe... ORPHA:79277
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Intracranial hemo... ORPHA:79318
Yunis-Varon Syndrome
Premature birth, Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal de... OMIM:216340
Shwachman-Diamond Syndrome 1
Steatorrhea, Myocardial necrosis OMIM:260400
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy, Cerebral edema ORPHA:68
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia, Hydrops fetalis ORPHA:93271
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... 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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