Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
strawberry notch 2
Synonyms:
Stno

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 Sbno2 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 Sbno2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Bone ... OMIM:166600
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
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
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... OMIM:611490
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... ORPHA:2485
Osteopetrosis, Autosomal Recessive 2
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,... OMIM:259710
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Pathologic ... OMIM:259700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Extramedullary hemat... OMIM:259720
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... OMIM:259730
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Osteopetrosis, Decreased circulating IgG level, Anemia, Splenome... OMIM:612301
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Chondrodysplasia, Blomstrand Type
Stillbirth, Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal os... OMIM:215045
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... ORPHA:37748
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Hypophosphatasia, Adult
Rickets, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Recurrent frac... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemic rickets, Rickets OMIM:193100
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Coarse metaphyseal trabecularization, Epiphyseal stippling ORPHA:1952
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Desmosterolosis
Failure to thrive, Osteopetrosis, Increased bone mineral density, Splenomegaly ORPHA:35107
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Decreased body weight, Osteoporosis, Increased bone mineral density OMIM:614856
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:600081
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Majeed Syndrome
Leukocytosis, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive, Increased su... ORPHA:77297
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Failure to thrive, Osteopetrosis, Bone marrow hypocellularity, Anemia, Pancytopenia, ... ORPHA:2785
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Splenomegaly, Osteopenia, Rickets OMIM:211600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:241530
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... ORPHA:53
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Recurrent fractures, Os... ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Osteomalacia, Tooth abscess, Rickets ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Anemia, Splenomegaly, Reduced bone mineral density, Recurrent fr... ORPHA:667
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Neonatal death, Sclerotic scapulae, Absent ossi... OMIM:601376
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density ORPHA:3352
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:264700
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:277440
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Failure to thrive, Abnormal epiphyseal ossification, Knee osteoarthritis, Pre... ORPHA:93284
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density ORPHA:157215
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Gaucher Disease Type 1
Leukopenia, Anemia, Pathologic fracture, Osteopenia, Splenomegaly, Increased circulating antibody... ORPHA:77259
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Wide anterior fontanel, Increased bone mineral density, Delayed patel... ORPHA:163649
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Rickets, Failure to thrive, Increased susceptibility to fractures, Delayed epip... ORPHA:289157
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Slender build, Bone marrow hypocellularity, Diaphysea... OMIM:131300
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Rickets OMIM:616026
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Infantile Systemic Hyalinosis
Failure to thrive, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Recurrent fra... ORPHA:2176
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Splenomegaly, Rickets OMIM:607765
Dent Disease 1
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300009
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Pathologic fra... OMIM:112250
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Fanconi-Bickel Syndrome
Failure to thrive, Osteomalacia OMIM:227810
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteoporosis, Osteopenia, Joint stiffness, Osteomalacia, Joint hyperflexibility ORPHA:1901
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Hypophosphatemic rickets OMIM:307800
Cystinosis
Failure to thrive, Rickets ORPHA:213
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Extramedullary hematopoiesis, Rickets ORPHA:79303
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Iron deficiency anemia, Weight loss, Osteoporosis, Osteomalacia ORPHA:309031
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Anemia, Increased bone mineral density, Small for gestational age OMIM:127000
Fanconi-Bickel Syndrome
Failure to thrive, Osteopenia, Rickets ORPHA:2088
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Weight loss, Sclerosis of hand bone, Increa... ORPHA:2905
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Rickets, Decreased circulating IgA level, Iron deficiency anem... OMIM:212750
12Q14 Microdeletion Syndrome
Failure to thrive, Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Wilson Disease
Hemolytic anemia, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Rothmund-Thomson Syndrome
Neutropenia, Small for gestational age, Leukemia, Increased susceptibility to fractures, Anemia, ... ORPHA:2909
Hypophosphatemic Rickets
Fibrous dysplasia of the bones, Rickets, Failure to thrive, Hyperostosis, Patchy variation in bon... ORPHA:437
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Fibrous Dysplasia Of Bone
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... ORPHA:249
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased circulating antibody level... ORPHA:77261
Dent Disease
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... ORPHA:1652
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Mccune-Albright Syndrome
Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Bone marrow hypocellularity, Aneur... ORPHA:562
Rothmund-Thomson Syndrome Type 2
Neutropenia, Small for gestational age, Leukemia, Anemia, Pathologic fracture, Abnormal trabecula... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Neutropenia, Small for gestational age, Leukemia, Anemia, Finger symphalangism, Abnormal trabecul... ORPHA:221008
Erdheim-Chester Disease
Weight loss, Anemia, Osteomyelitis, Increased bone mineral density, Osteolysis ORPHA:35687
Distal Renal Tubular Acidosis
Rickets, Failure to thrive, Increased susceptibility to fractures, Reduced bone mineral density, ... ORPHA:18
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Failure to thrive, Abnormal vertebral segmentation and fusion, Synostosis of c... ORPHA:90652
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contract... OMIM:602398
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Werner Syndrome
Joint stiffness, Slender build, Osteoporosis, Increased bone mineral density ORPHA:902
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Gaucher Disease
Pancytopenia, Anemia, Abnormal bone structure, Arthrogryposis multiplex congenita, Osteopenia, Os... ORPHA:355
Neu-Laxova Syndrome
Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteopenia, Flexion contracture, Osteo... ORPHA:2671
Raine Syndrome
Neonatal death, Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
Trichothiodystrophy
Neutropenia, Craniosynostosis, Anemia, Osteopenia, Panhypogammaglobulinemia, Increased bone miner... ORPHA:33364
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Small for gestational age, Rickets, Failure to thrive, Slender build, Anemia, R... OMIM:613658
Pseudohypoparathyroidism Type 1C
Obesity, Increased bone mineral density, Ectopic ossification ORPHA:79444
Pseudohypoparathyroidism Type 1A
Abnormal platelet function, Ectopic ossification, Reduced bone mineral density, Hyperostosis fron... ORPHA:79443
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Primary Hyperoxaluria
Failure to thrive, Generalized osteosclerosis, Recurrent fractures ORPHA:416
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Osteomalacia, Weight loss, Hypophosphatemic rickets ORPHA:3337
Schwartz-Jampel Syndrome
Cachexia, Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis... ORPHA:800
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Lowe Oculocerebrorenal Syndrome
Rickets, Failure to thrive, Joint contracture of the hand, Pathologic fracture, Joint hypermobili... OMIM:309000
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Occipital Horn Syndrome
Rickets, Osteoporosis, Osteopenia, Synostosis of joints, Osteomalacia, Joint hyperflexibility, Os... ORPHA:198
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Cystinosis, Nephropathic
Failure to thrive in infancy, Splenomegaly, Hypophosphatemic rickets, Rickets OMIM:219800
Atypical Werner Syndrome
Failure to thrive, Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Decreased ... ORPHA:79474
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteoporosis, Osteopenia, Osteomalacia, Abnormally ossified vertebrae ORPHA:2636
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Anemia, Arthritis, Recurrent fractures, Joint stiffness, Thrombocytopenia, Ost... ORPHA:534
Schinzel-Giedion Midface Retraction Syndrome
Splenopancreatic fusion, Failure to thrive, Thickened cortex of long bones, Sclerosis of skull ba... OMIM:269150
Williams Syndrome
Failure to thrive in infancy, Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Incre... ORPHA:904
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Failure to thrive in infancy, Fused cervical vertebra... ORPHA:51608

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 Sbno2

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 Sbno2.

No publications found that use IMPC mice or data for Sbno2.

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MGI Allele Allele Type Produced
Sbno2tm404325(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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