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Gene: Sbno2 MGI:2448490

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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

Order Alleles

IMPC Data Collections

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

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.

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
Increased bone mineral density, Stillbirth OMIM:265880
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... OMIM:612301
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ... ORPHA:2780
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ... ORPHA:37748
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularization ORPHA:1952
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Desmosterolosis
Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Stillbirth, Advanced ossification of carpal bones, Advanced tarsal os... OMIM:215045
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
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:600081
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... ORPHA:77297
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Failure to thrive, Rickets OMIM:211600
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia ORPHA:89937
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, B... ORPHA:2785
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex ORPHA:85184
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Wide anterior fontanel, Abnormal b... ORPHA:163649
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:264700
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:277440
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Rickets OMIM:607765
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure... OMIM:239000
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Cystinosis
Failure to thrive, Rickets ORPHA:213
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Thrombocytosis, Fa... OMIM:212750
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Failure to thrive, Rickets ORPHA:79303
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia OMIM:127000
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia ORPHA:309031
Fanconi-Bickel Syndrome
Osteopenia, Failure to thrive, Rickets ORPHA:2088
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Weight loss, Sclerosis of skull base, Increased c... ORPHA:2905
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis, Failure to thrive ORPHA:94063
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Incr... ORPHA:2909
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Werner Syndrome
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness ORPHA:902
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Mccune-Albright Syndrome
Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibr... ORPHA:562
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Anemia ORPHA:35687
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Fing... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing... ORPHA:221008
Fanconi-Bickel Syndrome
Failure to thrive, Rickets, Osteomalacia OMIM:227810
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... ORPHA:18
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca... ORPHA:90652
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... ORPHA:355
Raine Syndrome
Neonatal death, Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal... OMIM:259775
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ... OMIM:613658
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Obesity ORPHA:79444
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... ORPHA:79443
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Weight loss, De... OMIM:619381
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Wilson Disease
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... OMIM:277900
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... ORPHA:198
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint con... OMIM:309000
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Cystinosis, Nephropathic
Failure to thrive in infancy, Splenomegaly, Rickets, Weight loss, Hypophosphatemic rickets OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Anemia, Joint hyperflexibility, Arthritis, Fa... ORPHA:534
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr... OMIM:269150
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Joint sti... ORPHA:904
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer... 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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