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Gene: Hcar1 MGI:2441671

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Gene Summary

Name:
hydrocarboxylic acid receptor 1
Synonyms:
Gpr81

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal pelvic girdle bone morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 4.32×10-08
hyperactivity Hcar1em1(IMPC)Ccpcz HOM   Early adult 1.07×10-05
abnormal vertebral arch morphology Hcar1em1(IMPC)Ccpcz HOM   Early adult 8.38×10-05
decreased effector memory T-helper cell number Hcar1em1(IMPC)Ccpcz HOM Early adult 4.74×10-06
increased circulating alkaline phosphatase level Hcar1em1(IMPC)Ccpcz HOM Early adult 2.59×10-05
abnormal tibia morphology Hcar1em1(IMPC)Ccpcz HOM Early adult 5.86×10-07
vertebral transformation Hcar1em1(IMPC)Ccpcz HOM   Early adult 7.74×10-06

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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

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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Human diseases caused by Hcar1 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 Hcar1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f... OMIM:614135
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Spinal canal steno... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Pear-shap... ORPHA:93356
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... OMIM:300434
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Broad radial meta... ORPHA:99642
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Nephrolithiasis, Abnormal fibula morphology, Abnormal form of the ve... ORPHA:1837
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... OMIM:256050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... ORPHA:2370
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Femoral bo... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Schizophrenia 15
Hyperactivity OMIM:613950
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... ORPHA:166011
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... ORPHA:2114
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... OMIM:608728
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Mesomelia, Vertebral segmentation defect, Abno... ORPHA:2631
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,... OMIM:118651
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... OMIM:184252
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... ORPHA:1509
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... ORPHA:1159
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Hyperlysinuria, Anemia OMIM:238700
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... OMIM:108721
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... ORPHA:83468
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia... ORPHA:239
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syndactyly, Self-injurious beha... OMIM:619467
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone m... ORPHA:1803
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Abnormal repetitive mannerisms OMIM:615541
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Abnormal pelvis bone morphology ORPHA:2206
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Spi... OMIM:307800
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph... ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Splenomegaly, Delayed epiphyseal ossification, Genu... OMIM:602557
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia OMIM:605899
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Short femo... OMIM:249700
Ck Syndrome
Long toe, Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, Long fingers,... ORPHA:251383
Jeune Syndrome
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... ORPHA:474
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Tapered finger, Aggressive behavior, Long fingers, Clinodactyly of the 5th finger,... OMIM:609425
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... OMIM:610967
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Hyperactivity OMIM:300928
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Long penis, Coxa vara, Abnormal fibula morphology, Verte... ORPHA:1988
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... OMIM:620141
Shox-Related Short Stature
Short neck, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Scoliosis, Lower limb un... ORPHA:314795
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short metacarpal, Sand... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac wing, Abnormal ve... ORPHA:93315
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... OMIM:156550
Ck Syndrome
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis, Abnormal digit morphology OMIM:300831
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Gand Syndrome
Long toe, Hyperactivity, Long fingers, Tics, Inappropriate laughter OMIM:615074
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hyperactivity, Hypospadias, Short metatarsal, Spinal canal stenosis, Advanced o... OMIM:614613
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, 2-3 toe syndactyly, Scoliosis, Lymphopenia, A... ORPHA:391307
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Impulsivity, Ectopic kidney, Aplasia/Hypoplasia of the... ORPHA:3027
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... ORPHA:1788
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas... OMIM:261600
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Sandal gap, Abnormal repetitive mannerisms, Self-injurious be... ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Short neck, Bruxism, Recurrent hand flapping, Slender finger OMIM:613192
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Abnormality of t... OMIM:123000
Lamb-Shaffer Syndrome
Hyperactivity, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Abnormal temper tantru... ORPHA:530983
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... ORPHA:3429
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Elevated circulating cre... OMIM:167320
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies,... ORPHA:1458
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... OMIM:600785
Moebius Syndrome
Syndactyly, Brachydactyly, Short neck, Split hand, Micropenis, Abnormal pelvic girdle bone morpho... OMIM:157900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Fragile X Syndrome
Hyperactivity, Self-biting, Scoliosis, Recurrent hand flapping, Metacarpophalangeal joint hyperex... OMIM:300624
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior, Scoliosis OMIM:620023
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... OMIM:607634
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the ... ORPHA:397973
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... ORPHA:3035
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Lymphopenia, L... OMIM:250250
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Recurrent hand flapping, Self-mutilation OMIM:615516
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Bulging epiphyses, Renal insufficiency, Bowing of the legs, Del... OMIM:300554
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... ORPHA:2928
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal fem... ORPHA:352540
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Scoliosis, Recurrent han... OMIM:617600
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Short toe, Type E ... OMIM:600430
Osteopetrosis, Autosomal Dominant 2
Abnormality of the vertebral endplates, Abnormal pelvic girdle bone morphology, Fractures of the ... OMIM:166600
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Irregular vertebral e... OMIM:222765
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... ORPHA:93322
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... OMIM:206920
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S... ORPHA:140
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin... OMIM:108720
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Seckel Syndrome 1
Ivory epiphyses, Hyperactivity, Pancytopenia, Sandal gap, Abnormal finger flexion crease, Hypospa... OMIM:210600
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Ele... OMIM:302960
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Bow... OMIM:272460
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Pla... OMIM:166210
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bulging epiphyses, Bowing of the legs, Abnormal circulating calcium conc... OMIM:241530
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
13Q12.3 Microdeletion Syndrome
Hyperactivity, Kyphoscoliosis, Hip dysplasia, Camptodactyly, Self-mutilation, Hemihypotrophy of l... ORPHA:412035
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone ... ORPHA:1328
Geroderma Osteodysplasticum
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... OMIM:231070
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... OMIM:210720
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short... ORPHA:85293
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Tibial bowing, Slender long bone, Scoliosis, Biconcave vertebral b... OMIM:259420
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Abnormal shoulder morphology... ORPHA:2115
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thora... OMIM:252920
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Hyperactivity, Hypospadias, Absent thumb, Short thumb, 2-3 t... OMIM:617516
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolum... OMIM:252930
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bo... OMIM:600081
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... ORPHA:56305
Axial Mesodermal Dysplasia Spectrum
Short neck, Abnormality of the spleen, Abnormality of the ureter, Abnormal form of the vertebral ... ORPHA:1834
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, S... OMIM:252900
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Aredyld Syndrome
Splenomegaly, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Scoliosis, Brach... ORPHA:1133
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Thoracic scoliosis, Pilonidal sinus, Epiphyseal dysplasia, Aggressiv... OMIM:252940
Stuve-Wiedemann Syndrome 1
Short neck, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Clubbing, Abnorm... OMIM:601559
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, S... OMIM:610915
Osteogenesis Imperfecta, Type X
Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Micromelia, Nephrolithiasi... OMIM:613848
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Hemivertebrae... ORPHA:1112
Isolated Epispadias
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Abnormal pelvic girdle bo... ORPHA:93928
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... ORPHA:666
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ... OMIM:143095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... OMIM:102700
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Abnormal sacroiliac jo... ORPHA:289176
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Intellectual Disability, Buenos-Aires Type
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumb... ORPHA:3079
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae,... OMIM:309350
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone... OMIM:600057
Distal Duplication 17Q
Hallux valgus, Accessory spleen, Hyperactivity, Rhizomelia, Arachnodactyly, Overlapping toe, Genu... ORPHA:3379
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... ORPHA:1422
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Short me... OMIM:304120
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Cone-shaped epiphys... OMIM:139210
Mend Syndrome
Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Aggressive behavior, Kyphosis, Eleva... ORPHA:401973
Meier-Gorlin Syndrome 1
Coxa valga, Aplasia/Hypoplasia of the patella, Flat glenoid fossa, Hemivertebrae, Patellar aplasi... OMIM:224690
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Short neck, Long fingers, Polysplenia, Attention deficit hypera... OMIM:614294
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Abnormal thumb morpholo... ORPHA:500095
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Sco... ORPHA:457284
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... OMIM:259770
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Diaphyseal dysplasia, Polydactyly, Male... ORPHA:137605
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Micromelia, Capitate-hamate fusion, Epispadias, Abnormality of the uret... ORPHA:289

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 Hcar1

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 Hcar1.

No publications found that use IMPC mice or data for Hcar1.

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
Hcar1em1(IMPC)Ccpcz Indel Mice
Hcar1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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