Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chondromodulin
Synonyms:
ChM-I,  Lect1,  Chmd,  Chondromodulin 1,  Bricd3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cnmd 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteomesopyknosis
Increased bone mineral density OMIM:166450
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
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Recurrent fractures, Increased susceptibility to fractures, Ge... ORPHA:210110
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Myelofibrosis, Increased bone mineral density, Hyperostosis craniali... OMIM:231095
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Schnitzler Syndrome
Increased bone mineral density, Increased circulating IgM level, Arthritis ORPHA:37748
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Hip Dysplasia, Beukes Type
Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality of bone mi... ORPHA:2114
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Dysosteosclerosis
Craniofacial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization, Increased b... ORPHA:1782
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosis, Calvarial osteos... OMIM:259700
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density OMIM:616943
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, ... OMIM:239000
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Joint hypermobility, Limitation of knee mobility, Osteoporosis, R... OMIM:614856
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Majeed Syndrome
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... ORPHA:77297
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Camurati-Engelmann Disease
Bone marrow hypocellularity, Sclerosis of skull base, Cortical thickening of long bone diaphyses,... OMIM:131300
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased osteoclast count... OMIM:259720
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste... OMIM:602080
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis, Increased circ... ORPHA:77261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
X-Linked Hypophosphatemia
Rickets, Limitation of joint mobility, Generalized osteosclerosis, Hypophosphatemia, Arthritis, E... ORPHA:89936
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Increased circulating antibody level, Sclerosis ... ORPHA:2905
Desmosterolosis
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Generalized osteos... OMIM:602398
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Gaucher Disease
Osteopenia, Increased circulating ferritin concentration, Pathologic fracture, Osteomyelitis, Joi... ORPHA:355
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures... ORPHA:79443
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Raine Syndrome
Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste... OMIM:259775
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
Trichothiodystrophy
Osteopenia, Panhypogammaglobulinemia, Multiple joint contractures, Craniosynostosis, Increased bo... ORPHA:33364
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Elevated circulating creatine kin... ORPHA:800
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria ORPHA:416
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Re... ORPHA:667
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Hypocalcemia, Elevated circulating creatine kinase concentration, Os... ORPHA:2785
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Joint stiffness, Join... ORPHA:904
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones OMIM:269150
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decreased circulating ... OMIM:201750
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010

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 Cnmd

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 Cnmd.

No publications found that use IMPC mice or data for Cnmd.

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
Cnmdtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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