Gene Summary

Name:
calcitonin receptor
Synonyms:
Clr

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal circulating calcium level Calcrem1(IMPC)Rbrc HOM Late adult 1.24×10-05
abnormal circulating alkaline phosphatase level Calcrem1(IMPC)Rbrc HOM Late adult 1.00×10-15

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Calcr 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 Calcr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteoporosis
Osteoporosis OMIM:166710

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal sclerosis, Facial hyperostosis OMIM:218300
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Osteoporosis
Osteoporosis OMIM:166710
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Adamantinoma
Hypercalcemia ORPHA:55881
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Osteopenia, Osteoporosis, Joint contracture of the hand OMIM:264010
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteopenia OMIM:166260
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Intermediate Osteopetrosis
Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosis, Osteosclerosis of... ORPHA:210110
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bone ossifica... ORPHA:2114
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteomyelitis, Osteopetrosis, Pathologic fractu... OMIM:259700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Albers-Sch├Ânberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Osteoporosis OMIM:601220
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Increased susceptibility to fractures, Osteo... ORPHA:77297
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Elevated plasma citrulline, Hypercystine... ORPHA:3124
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Sclerosis of skull base, Increa... OMIM:131300
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteolytic defects of the... ORPHA:763
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base ORPHA:2905
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Elbow a... ORPHA:2658
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypophosphatasia
Hypercalcemia ORPHA:436
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Tarsal synostosis,... ORPHA:90652
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Timothy Syndrome
Hypocalcemia OMIM:601005
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Gaucher Disease
Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, Abnormal bone s... ORPHA:355
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Shoulder flexion contracture, Flex... ORPHA:800
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Werner Syndrome
Osteoporosis, Increased bone mineral density, Joint stiffness ORPHA:902
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density ORPHA:35687
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Ectopic ossification, Increased bone mineral density, Hyperostosis ... ORPHA:79443
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Facial palsy secondary to cranial hypero... OMIM:269500
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Atypical Werner Syndrome
Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Osteolytic defects of the p... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:95409
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Recurrent fractures ORPHA:667
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Mastocytosis
Hypercalcemia ORPHA:98292
Pheochromocytoma
Hypercalcemia OMIM:171300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Williams Syndrome
Osteopenia, Increased bone mineral density, Joint stiffness, Joint laxity, Osteoporosis, Radiouln... ORPHA:904
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:85138
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Increased density of long bones, Sclerosis of skull base OMIM:269150
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Hypocalcemia, Hypermagnesemia ORPHA:358
Ppoma
Hypercalcemia ORPHA:97278
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Somatostatinoma
Hypercalcemia ORPHA:97283
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Grfoma
Hypercalcemia ORPHA:97261
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Hennekam Syndrome
Hypocalcemia ORPHA:2136
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Digeorge Syndrome
Hypocalcemia OMIM:188400
Sarcoidosis
Hypercalcemia ORPHA:797
Charge Syndrome
Hypocalcemia OMIM:214800
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Sotos Syndrome
Hypercalcemia ORPHA:821

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 Calcr

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 Calcr.

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
Calcrtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Calcrem1(IMPC)Rbrc Exon Deletion Mice
Calcrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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