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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
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Scleroti... OMIM:615198
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... ORPHA:329475
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Osteolysis, Thin bo... OMIM:174810
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Elevated circulating alkaline phosp... OMIM:126550
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:600785
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Ele... OMIM:606631
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to... OMIM:146300
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... ORPHA:668
Osteoporosis
Osteoporosis OMIM:166710
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Rickets, Osteo... OMIM:193100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Elevated alkaline phosphatase of bone origin, Scoliosis OMIM:615923
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration OMIM:619073
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating alkaline phosphatase con... OMIM:620366
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, Increased susce... OMIM:610968
Hypophosphatasia, Childhood
Low alkaline phosphatase, Craniosynostosis OMIM:241510
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi... ORPHA:79106
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration, Paget disease of bone OMIM:615422
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Short neck, Elbow flexion contracture, Knee flexion contracture, Ele... OMIM:616809
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Fractures of the long bones, Osteolysis, Increased susce... OMIM:602080
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis ORPHA:529665
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia ORPHA:89937
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon... ORPHA:73
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Increased... OMIM:259700
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:241530
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... OMIM:616829
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Paget disease of bone, Lumbar hyperlordosis, Elevated alkaline phosphatase of bone origin OMIM:167320
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration OMIM:613312
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Elevated circulating alkaline p... ORPHA:52430
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures OMIM:616833
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Elevated circulating alkaline phosphatase concentration OMIM:174050
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Fanconi Renotubular Syndrome 1
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia OMIM:134600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:277440
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... OMIM:619658
Aggressive Systemic Mastocytosis
Portal hypertension, Osteoporosis, Osteolysis, Elevated circulating alkaline phosphatase concentr... ORPHA:98850
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase OMIM:618879
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Spinal canal stenosis, Elevated circulating alkaline phosp... OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets OMIM:616026
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Kyphosis, Osteoporosi... OMIM:239000
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Sclerosis of skull base, Elevated circulating alkaline phosph... OMIM:269300
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Elevated circulating alkal... ORPHA:352540
Hypophosphatasia, Infantile
Craniosynostosis, Vertebral clefting, Low alkaline phosphatase, Increased susceptibility to fract... OMIM:241500
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Osteomalacia, Reduced bone mineral density, Hypopho... ORPHA:157215
Fanconi-Bickel Syndrome
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating a... ORPHA:2088
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... ORPHA:85188
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas... ORPHA:289176
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... ORPHA:785
Cystic Echinococcosis
Elevated hepatic transaminase, Eosinophilia, Jaundice, Bone cyst, Elevated circulating alkaline p... ORPHA:400
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Knee flexion contracture, Elevated circulating alkaline phosphatase ... OMIM:156400
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:214900
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Osteolysis, Abnormal bon... ORPHA:249
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... OMIM:619484
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest... OMIM:227810
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:235555
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick... ORPHA:289157
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat... ORPHA:263455
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase... ORPHA:186
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:613489
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Eiken Syndrome
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Delayed tarsal ossificatio... OMIM:600002
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Knee flexion contracture, Elevated circulating alkaline phosphatase concentrat... OMIM:618162
Cholestasis, Benign Recurrent Intrahepatic, 2
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice OMIM:605479
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Hyperparathyroidism, Transient Neonatal
Osteopenia, Recurrent fractures, Subperiosteal bone formation, Elevated circulating alkaline phos... OMIM:618188
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Cholesteryl Ester Storage Disease
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... OMIM:278000
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:617093
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... ORPHA:263501
Refractory Celiac Disease
Elevated hepatic transaminase, Osteoporosis, Elevated alkaline phosphatase of bone origin ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:613812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration OMIM:614749
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... OMIM:619662
Graft Versus Host Disease
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... OMIM:616828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Lathosterolosis
Elevated hepatic transaminase, Lumbosacral meningocele, Intrahepatic cholestasis, Osteoporosis, E... OMIM:607330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpal bones OMIM:239300
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... OMIM:601847
Raine Syndrome
Increased bone mineral density, Short neck, Elevated circulating alkaline phosphatase concentrati... OMIM:259775
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Wide anterior fontanel, Jaundice, ... OMIM:614866
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... OMIM:614576
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Low alkaline phosphatase, Scoliosis, Joint hypermobility ORPHA:369837
Developmental And Epileptic Encephalopathy 95
Joint laxity, Multiple joint contractures, Low alkaline phosphatase, Elevated circulating alkalin... OMIM:618143
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hypoplasia of the ... OMIM:300106
Gallbladder Disease 1
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:600803
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... OMIM:613095
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase ORPHA:314389
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619525
Hyperphosphatasia-Intellectual Disability Syndrome
Elevated circulating alkaline phosphatase concentration, Scoliosis, Short neck ORPHA:247262
Rothmund-Thomson Syndrome
Osteopenia, Increased susceptibility to fractures, Abnormal trabecular bone morphology, Reduced b... ORPHA:2909
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Portal hypertension, Jaundice, Elevated circulating alkaline phosp... ORPHA:567983
Isolated Biliary Atresia
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:30391
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice ORPHA:69665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Elevated circulating alkaline phosphatase concentration, Scoliosis OMIM:614207
Boudin-Mortier Syndrome
Joint laxity, Elevated alkaline phosphatase of bone origin OMIM:619543
Caroli Disease
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... ORPHA:53035
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Elevated circulating alkaline phosphatase concentration, Craniosynostosis, E... OMIM:620005
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Elevated circulating alkaline phosphatase concentration, Distal arthrogryposis, Dec... OMIM:618268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration, Scoliosis OMIM:618548
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,... ORPHA:171
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Synostosis involving bones... ORPHA:221016
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level ORPHA:247691
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism ORPHA:221008
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase OMIM:201100
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration ORPHA:67
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase OMIM:137920
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Mirizzi Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration ORPHA:521219
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:617156
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con... ORPHA:562639
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Short neck, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... OMIM:300868
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Elevated circulating alk... ORPHA:275761
Caroli Syndrome
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... ORPHA:480520
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:280000
Al Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:85443
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... ORPHA:94093
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:247598
Senior-Boichis Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... ORPHA:84081
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... ORPHA:100085
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, J... OMIM:619534
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... OMIM:124000
Reynolds Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice OMIM:613471
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... ORPHA:100086
Generalized Arterial Calcification Of Infancy
Elevated alkaline phosphatase of bone origin, Osteomalacia, Abnormal calcification of the carpal ... 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.

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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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