Gene Summary

Name:
amino carboxymuconate semialdehyde decarboxylase
Synonyms:
N/A

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
increased mean platelet volume Acmsdtm1b(EUCOMM)Hmgu HOM Early adult 1.55×10-06
increased bone mineral density Acmsdtm1b(EUCOMM)Hmgu HOM Early adult 6.55×10-05
decreased circulating bilirubin level Acmsdtm1b(EUCOMM)Hmgu HOM   Early adult 6.21×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

Human diseases caused by Acmsd 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 Acmsd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... OMIM:231095
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Giant platelets, Chronic hemo... OMIM:210250
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... OMIM:259710
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... OMIM:611490
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... OMIM:613673
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Pathologic fracture, Splenomeg... OMIM:259700
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... OMIM:313900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Osteoporosis... OMIM:607330
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... ORPHA:53
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Camptodactyly OMIM:616737
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:612653
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased bone ... ORPHA:77259
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Majeed Syndrome
Leukocytosis, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anemia, Increased ... ORPHA:77297
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... OMIM:109270
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedulla... OMIM:259720
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... OMIM:259730
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:182900
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... OMIM:235700
Megaloblastic Anemia, Folate-Responsive
Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Hypersegmentation of neutrophil nu... OMIM:601775
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume, Flexion contracture, Camptodactyly ORPHA:487796
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Anemia, Diaphyseal sclerosis, Increased bone mineral ... OMIM:131300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral density, Panc... ORPHA:77261
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Sclerosis of hand bone, Sclerosis of skull ... ORPHA:2905
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Gaucher Disease
Anemia, Abnormal bone structure, Arthrogryposis multiplex congenita, Splenomegaly, Osteopenia, Os... ORPHA:355
Trichothiodystrophy
Neutropenia, Craniosynostosis, Anemia, Osteopenia, Increased bone mineral density, Increased mean... ORPHA:33364
Desmosterolosis
Osteopetrosis, Increased bone mineral density, Splenomegaly ORPHA:35107
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Anemia, Increased bone mineral density OMIM:127000
Werner Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Erdheim-Chester Disease
Anemia, Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis, Arthrogr... ORPHA:800
Pseudohypoparathyroidism Type 1A
Abnormal platelet function, Ectopic ossification, Reduced bone mineral density, Hyperostosis fron... ORPHA:79443
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Anemia, Splenomegaly OMIM:612301
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Osteopetrosis, Anemia, Pancytopenia, Thrombocytopenia, Recurrent fractures, Elliptocy... ORPHA:2785
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Increased bone mineral densit... ORPHA:79474
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Anemia, Reduced bone mineral density, Splenomegaly, Recurrent fr... ORPHA:667
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Williams Syndrome
Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Increased bone mineral density, Joi... ORPHA:904
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones, Splenop... OMIM:269150

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 Acmsd

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 Acmsd.

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

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MGI Allele Allele Type Produced
Acmsdtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Acmsdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Acmsdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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