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

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 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
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Elevated circulating alkaline phosphatase concentration OMIM:615198
Van Buchem Disease
Cranial hyperostosis, Elevated circulating alkaline phosphatase concentration, Thickened cortex o... OMIM:239100
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration, Osteolysis, Pathologic fracture, Thin bo... OMIM:174810
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Increased spinal bo... ORPHA:329475
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Elevated circulating alkaline phosphatase concentration OMIM:144800
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration, Osteolysis, Fractures of the long bones,... OMIM:167250
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating ... OMIM:122860
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Elevated circulating alkaline phosphatase concentrati... OMIM:600785
Osteosarcoma
Osteolysis, Increased circulating lactate dehydrogenase concentration, Elevated circulating alkal... ORPHA:668
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Low alkaline phosphatase, Osteomalacia, Pathologic fracture, Increa... OMIM:146300
Osteoporosis
Osteoporosis OMIM:166710
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Osteo... OMIM:193100
Camurati-Engelmann Disease, Type 2
Hyperostosis, Elevated circulating alkaline phosphatase concentration, Knee flexion contracture, ... OMIM:606631
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration OMIM:619073
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Elevated circulating alkaline phosphatase concentration, Recurrent frac... OMIM:126550
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hyperparathyroidism, Transient Neonatal
Osteopenia, Elevated circulating alkaline phosphatase concentration OMIM:618188
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypophosphatasia, Childhood
Craniosynostosis, Low alkaline phosphatase OMIM:241510
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Thin bony ... OMIM:600081
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Osteopenia, Elevated circulating alkaline phosphatase concentration, Knee fl... OMIM:616809
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Elevated circulating alkaline phosphatase concentration, Osteomalacia ORPHA:89937
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:613388
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating alkaline phosphatase concentration, Decreased liver function, Elevated hepat... OMIM:616829
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Recurrent fractures, Elevated circulating alkaline phosphatase... OMIM:241530
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration, Osteolysis, Increased susceptibility to ... OMIM:602080
Osteogenesis Imperfecta, Type Xi
Osteopenia, Elevated circulating alkaline phosphatase concentration, Increased susceptibility to ... OMIM:610968
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Recurrent fractures, Increased bone mineral density, Elevated circulatin... OMIM:239000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Osteoarthritis OMIM:616833
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased circulating lactate dehydrogenase concentration, Osteopetrosis, Incre... OMIM:259700
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Thin bony ... OMIM:264700
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Thin bony ... OMIM:277440
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase OMIM:618879
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Osteolysis, Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Increas... ORPHA:52430
Aggressive Systemic Mastocytosis
Osteoporosis, Osteolysis, Elevated total serum tryptase, Elevated circulating alkaline phosphatas... ORPHA:98850
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Osteoarthritis... OMIM:307800
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Elevated tissue non-specific alkaline phosphatase, Delayed epiphyseal o... ORPHA:785
Fanconi-Bickel Syndrome
Rickets, Elevated circulating alanine aminotransferase concentration, Elevated circulating alkali... ORPHA:2088
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Elevated alkaline phosphatase of bone origin, Reduced bone mineral dens... ORPHA:157215
Craniometadiaphyseal Dysplasia
Osteopenia, Elevated circulating alkaline phosphatase concentration, Sclerosis of skull base, Wid... OMIM:269300
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase OMIM:214900
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Fanconi-Bickel Syndrome
Elevated circulating alkaline phosphatase concentration, Osteomalacia OMIM:227810
Oncogenic Osteomalacia
Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Increased susceptib... ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Hip contracture, Kn... OMIM:156400
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Elevated alkalin... ORPHA:289176
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Cystic Echinococcosis
Elevated hepatic transaminase, Bone cyst, Jaundice, Elevated circulating alkaline phosphatase con... ORPHA:400
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 3
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:613812
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Elevated hepat... ORPHA:263455
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasia of the bones, El... ORPHA:249
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased susceptibility to ... ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elevated circulating alkaline phosphatase concentration, Elbow flexion contracture, Sclerosis of ... OMIM:618162
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Generalized osteosclerosis, Enthesitis, Reduced bone mineral density, ... ORPHA:89936
Congenital Disorder Of Glycosylation, Type Iij
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Hepatic f... OMIM:613489
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration OMIM:605479
Eiken Syndrome
Delayed ossification of carpal bones, Delayed tarsal ossification, Elevated circulating alkaline ... OMIM:600002
Primary Biliary Cholangitis
Osteoporosis, Jaundice, Elevated circulating alkaline phosphatase concentration, Hepatitis, Hepat... ORPHA:186
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Enthesitis, Fibrous dysplasia of the bones, Hyperostosis, E... ORPHA:437
Hyperphosphatasia With Mental Retardation Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Elevated alkaline phosphatase of bone origin, Elevated hepatic trans... OMIM:616828
Cog4-Cdg
Fatal liver failure in infancy, Elevated circulating alkaline phosphatase concentration, Elevated... ORPHA:263501
Refractory Celiac Disease
Osteoporosis, Elevated alkaline phosphatase of bone origin, Elevated hepatic transaminase ORPHA:398063
Graft Versus Host Disease
Acute hepatitis, Elevated hepatic transaminase, Stiff interphalangeal joints, Limited shoulder mo... ORPHA:39812
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase OMIM:201100
Gallbladder Disease 1
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase OMIM:600803
Hyperphosphatasia With Mental Retardation Syndrome 1
Delayed ossification of carpal bones, Elevated circulating alkaline phosphatase concentration OMIM:239300
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concen... OMIM:601847
Familial Parathyroid Adenoma
Osteopenia, Generalized osteoporosis, Recurrent fractures, Elevated alkaline phosphatase of bone ... ORPHA:99877
Hyperphosphatasia With Mental Retardation Syndrome 3
Elevated circulating alkaline phosphatase concentration OMIM:614207
Raine Syndrome
Elevated circulating alkaline phosphatase concentration, Arthrogryposis multiplex congenita, Incr... OMIM:259775
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Elevated ... OMIM:614576
Lathosterolosis
Osteoporosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkal... OMIM:607330
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Craniosynostosis, Osteopenia, Low alkaline phosphatase ORPHA:369837
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase ORPHA:314389
Developmental And Epileptic Encephalopathy 95
Arthrogryposis multiplex congenita, Joint laxity, Low alkaline phosphatase, Elevated circulating ... OMIM:618143
Dent Disease
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... ORPHA:1652
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:567983
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Caroli Disease
Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Jaundice, ... ORPHA:53035
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase ORPHA:69665
Isolated Biliary Atresia
Elevated hepatic transaminase, Prolonged neonatal jaundice, Jaundice, Elevated circulating alkali... ORPHA:30391
Rothmund-Thomson Syndrome
Osteopenia, Increased susceptibility to fractures, Reduced bone mineral density, Abnormal trabecu... ORPHA:2909
Trichohepatoneurodevelopmental Syndrome
Elevated circulating alkaline phosphatase concentration, Distal arthrogryposis, Decreased liver f... OMIM:618268
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin OMIM:167320
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Jaundice, Rheumatoid arthritis, Elevated circulating alkaline phosphatase concentration OMIM:108050
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level ORPHA:247691
Hyperphosphatasia-Intellectual Disability Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:247262
Hyperphosphatasia With Mental Retardation Syndrome 2
Elevated circulating alkaline phosphatase concentration OMIM:614749
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Synostosis involving bones of the upper limbs, Finger sympha... ORPHA:221016
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Primary Sclerosing Cholangitis
Osteoporosis, Elevated hepatic transaminase, Acute hepatic failure, Chronic hepatic failure, Elev... ORPHA:171
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase ORPHA:67
Rothmund-Thomson Syndrome Type 1
Osteopenia, Finger symphalangism, Abnormal trabecular bone morphology ORPHA:221008
Renal Cysts And Diabetes Syndrome
Gout, Abnormality of alkaline phosphatase level, Elevated hepatic transaminase OMIM:137920
Mirizzi Syndrome
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase ORPHA:521219
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration, Wide anterior fontanel OMIM:618548
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Interface... ORPHA:562639
Caroli Syndrome
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... ORPHA:480520
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Elevated hepatic transaminase, Jaundice, Elevated circulating alk... ORPHA:275761
Al Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:85443
Neuroleptic Malignant Syndrome
Elevated circulating alkaline phosphatase concentration, Increased circulating lactate dehydrogen... ORPHA:94093
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated alkaline... ORPHA:100085
Reynolds Syndrome
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase OMIM:613471
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Jaundic... ORPHA:247598
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated circulating alkaline phosphatase concentration, Flexion contracture OMIM:300868
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of... ORPHA:100086
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Elevated alkaline phosphata... 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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MGI Allele Allele Type Produced
Zbtb40tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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