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Gene: Zbtb40 MGI:2682254

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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:
zinc finger and BTB domain containing 40
Synonyms:
N/A

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 Zbtb40 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 Zbtb40 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis, Elevated cir... OMIM:615198
Paget Disease Of Bone 4
Osteolysis, Elevated circulating alkaline phosphatase concentration OMIM:606263
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Osteolysis, Elevated circulating alkaline phosphatase conc... OMIM:174810
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Elevated circulating alkaline phosphatase con... OMIM:167250
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis,... OMIM:126550
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Cortical sclerosis, Osteomyelitis, Increased susceptibil... ORPHA:210110
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Ele... OMIM:600785
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Elevated circulating ... OMIM:122860
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Elevated circulating alkaline phosphatase concentratio... OMIM:606631
Osteoporosis
Osteoporosis OMIM:166710
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Low alkaline p... OMIM:146300
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat... ORPHA:668
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Elevated circulating alkaline phosphatase concentration, Osteo... OMIM:193100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Scoliosis, Elevated alkaline phosphatase of bone origin OMIM:615923
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration OMIM:619073
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating alkaline phosphatase concentration,... OMIM:620366
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Elevated circulating alkali... OMIM:610968
Hypophosphatasia, Childhood
Low alkaline phosphatase, Craniosynostosis OMIM:241510
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Absence of the sacrum, Limi... ORPHA:79106
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Paget disease of bone, Elevated circulating alkaline phosphatase concentration OMIM:615422
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Elevated circul... OMIM:616809
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:600081
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, In... OMIM:602080
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Elevated circulating alkaline phosphatase concentration, Osteomalacia ORPHA:89937
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormality of the cervica... ORPHA:73
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration OMIM:618879
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Sandwich appearance of vertebral bodie... OMIM:259700
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Eleva... OMIM:241530
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616829
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Paget disease of bone, Elevated alkaline phosphatase of bone origin, Back pain OMIM:167320
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration OMIM:613312
Idiopathic Juvenile Osteoporosis
Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures ORPHA:85193
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Pathologic fracture, Increased susceptibility to fractures, ... ORPHA:52430
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures, Elevated circulating alkaline phosphatase concentration OMIM:616833
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Elevated circulating alkaline phosphatase concentration OMIM:174050
Fanconi Renotubular Syndrome 1
Rickets, Elevated circulating alkaline phosphatase concentration, Osteomalacia OMIM:134600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:277440
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Decreased liver function, Pathologic fracture, Portal hypertension... ORPHA:98850
Osteogenesis Imperfecta, Type Vi
Increased susceptibility to fractures, Biconcave vertebral bodies, Elevated circulating alkaline ... OMIM:613982
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619658
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Rickets, Elevated circulating alkaline p... OMIM:616026
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620375
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Spinal canal stenosis, Ricke... ORPHA:289176
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Increased bone mineral density, Elevated circulating alkaline phosphatase c... OMIM:239000
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Elevated circulating alkaline phosphatase concentration, Sco... OMIM:269300
Oncogenic Osteomalacia
Abnormal vertebral morphology, Pathologic fracture, Fibrous dysplasia of the bones, Increased sus... ORPHA:352540
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Osteoporosis, Elevated tissue non-specific alkaline ... ORPHA:785
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Increased susceptibility to fractures, Decreased calv... OMIM:241500
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Elevated alkaline phosphatase of bon... ORPHA:157215
Lathosterolosis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:607330
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Increased susceptibility to fractures, El... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen... OMIM:307800
Fanconi-Bickel Syndrome
Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati... ORPHA:2088
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Abnormality of alkaline phosphatase level, Ivory epiphyses of the distal phalanges of... OMIM:190350
Cystic Echinococcosis
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Subperiosteal bone formation, Elevated circulating alkaline phosphatase concentration OMIM:211900
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:214900
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Pathologic fracture, Hip contracture, Knee flexion contracture, Elevated circulating ... OMIM:156400
Tafro Syndrome
Myelofibrosis, Increased circulating lactate dehydrogenase concentration, Elevated circulating al... ORPHA:457077
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Abnormality of alkaline phosphatase level OMIM:618010
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Rickets, Osteomalacia, Elevat... OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Elevated circu... ORPHA:263455
X-Linked Hypophosphatemia
Rickets, Limitation of joint mobility, Sacroiliac joint synovitis, Elevated circulating alkaline ... ORPHA:89936
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Scoliosis, Elevated circulating alkaline phosphatase concentration, Joint hypermobility OMIM:618590
Eiken Syndrome
Delayed epiphyseal ossification, Delayed tarsal ossification, Delayed ossification of carpal bone... OMIM:600002
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Elevated circulating al... OMIM:613489
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Elevated circulating... OMIM:618162
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... ORPHA:79302
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Elevated circulating alkaline phosphatase concentration, Subperiosteal... OMIM:618188
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:605479
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Cholesteryl Ester Storage Disease
Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity... OMIM:278000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased liver function, Ele... OMIM:617093
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:263501
Refractory Celiac Disease
Osteoporosis, Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphat... ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 3
Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransfe... OMIM:613812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Elevated circulating alkaline phosphatase concentration, Left unicoronal synostosis OMIM:614749
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Portal hypertension, Elevat... ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619662
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Dupuytren contracture, Elevated circulat... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentra... OMIM:616828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Delayed ossification of carpal bones, Elevated circulating alkaline phosphatase concentration OMIM:239300
Raine Syndrome
Elevated circulating alkaline phosphatase concentration, Short neck, Subperiosteal bone formation... OMIM:259775
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... OMIM:601847
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:614866
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:614576
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Joint hypermobility, Low alkaline phosphatase, Craniosynostosis, Scoliosis ORPHA:369837
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Elevated circulating alkaline phosphatase concentration, Joint hyper... OMIM:618143
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:600803
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Abnormality of alkaline phosphatase level, Lum... OMIM:300106
Congenital Disorder Of Glycosylation, Type Iiaa
Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Knee flexion cont... OMIM:620454
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Wild Type Attr Amyloidosis
Spinal canal stenosis, Elevated circulating alkaline phosphatase concentration ORPHA:330001
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Jaundice, Elevated circulating alkaline phosphatase con... OMIM:613095
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase ORPHA:314389
Hyperphosphatasia-Intellectual Disability Syndrome
Short neck, Scoliosis, Elevated circulating alkaline phosphatase concentration ORPHA:247262
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:69665
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:30391
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Reduced bone mineral density, Increased suscepti... ORPHA:2909
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal hypertension, Elevated... ORPHA:53035
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:605814
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin, Joint hypermobility OMIM:619543
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Scoliosis, Elevated circulating alkaline phosphatase concentration OMIM:614207
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Craniosynostosis, Elevated circulating hepatic transaminase concentration, Portal hypertension, E... OMIM:620005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Scoliosis, Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration OMIM:618548
Primary Sclerosing Cholangitis
Osteopenia, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic fai... ORPHA:171
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Joint hypermob... OMIM:618268
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Pathologic fracture, Synostosis involving bones ... ORPHA:221016
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration ORPHA:247691
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Finger symphalangism ORPHA:221008
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase OMIM:201100
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:67
Combined Oxidative Phosphorylation Deficiency 58
Elevated circulating alkaline phosphatase concentration OMIM:620451
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:521219
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... OMIM:137920
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Elevated circ... OMIM:617156
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:562639
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:275761
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:280000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Elevated circulating alkali... OMIM:300868
Al Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:85443
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:94093
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Hypomagnesemia 3, Renal
Rickets, Elevated circulating alkaline phosphatase concentration OMIM:248250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:247598
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Elevated circulatin... ORPHA:84081
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Osteopenia, Elevated circulating aspartate aminotransfe... OMIM:619534
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:124000
Reynolds Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:613471
Gallbladder Neuroendocrine Tumor
Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of hepatic origin, Interm... ORPHA:100086
Generalized Arterial Calcification Of Infancy
Osteomalacia, Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Elevated alka... ORPHA:51608
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin ORPHA:411634

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 Zbtb40

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 Zbtb40.

No publications found that use IMPC mice or data for Zbtb40.

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
Zbtb40tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zbtb40tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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