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Gene: Zdhhc20 MGI:1923215

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Gene Summary

Name:
zinc finger, DHHC domain containing 20
Synonyms:
4930542A17Rik,  B230110O18Rik,  ENSMUSG00000055956,  5033406L14Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Zdhhc20em1(IMPC)Hmgu HOM Early adult 8.02×10-07
abnormal tooth morphology Zdhhc20em1(IMPC)Hmgu HOM Early adult 3.89×10-05
decreased bone mineral content Zdhhc20em1(IMPC)Hmgu HOM   Early adult 7.87×10-05
abnormal tail morphology Zdhhc20em1(IMPC)Hmgu HOM Early adult 3.07×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Zdhhc20 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 Zdhhc20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Oculoskeletodental Syndrome
Hypercalcemia, Abnormality of the dentition, Oligodontia, Hypocalcemia, Microdontia, Enamel hypop... ORPHA:557003
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Hypophosphatasia
Hypercalcemia, Craniosynostosis, Abnormality of the dentition ORPHA:436
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Intermediate Osteopetrosis
Abnormal dental morphology, Cortical sclerosis, Abnormality of the dentition, Generalized osteosc... ORPHA:210110
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Dec... ORPHA:93324
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Infantile Myofibromatosis
Gingival fibromatosis, Bone cyst, Osteolysis, Hypercalcemia ORPHA:2591
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Premature loss of... OMIM:602080
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Fibrous Dysplasia Of Bone
Thin bony cortex, Hypercalcemia, Osteomalacia, Abnormal zygomatic bone morphology, Fibrous dyspla... ORPHA:249
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Abnormality of the dentition, Dec... OMIM:241500
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... OMIM:144750
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Micrognathia, Hypophosphatemia, Tooth malposition OMIM:156400
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Bone cyst, Osteolysi... ORPHA:93160
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen ORPHA:251004
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, En... OMIM:612462
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Hypercalcemia, Micrognathia, Abnormality of the dentition, Eruption failure, Hig... ORPHA:476126
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Carious teeth, Generalized osteosclerosis, Mandibular osteomyelitis... ORPHA:53
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Kenny-Caffey Syndrome, Type 1
Carious teeth, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis OMIM:244460
Oculoskeletodental Syndrome
Macroglossia, Hypercalcemia, Oligodontia, Hypocalcemia OMIM:618440
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bon... OMIM:264700
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Hype... ORPHA:94089
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Hypertriglyceridemia, Hypercalcemia, Exaggerated cupid's ... ORPHA:369837
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Thin vermilion ... OMIM:241410
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Ring Chromosome 10 Syndrome
Long philtrum, Thin vermilion border, Hypocalcemia, Micrognathia ORPHA:1438
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... OMIM:600081
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit... ORPHA:2323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Subperiosteal bone ... OMIM:211900
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Generalized bone demineralization ORPHA:199299
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Craniosynostosis, Carious teeth, Hypocalcemia, Osteopetrosis, Cal... OMIM:259700
Monosomy 13Q34
Hypercalcemia, Micrognathia ORPHA:96168
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hypophosphatasia, Adult
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Carious teeth, ... OMIM:146300
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Multiple Myeloma
Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Hyperphosphatemia, Subcutaneous ossification, Hypocalcem... OMIM:103580
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... OMIM:601678
Hyperparathyroidism-Jaw Tumor Syndrome
Mandibular pain, Hypercalcemia, Osteoporosis, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Mandibular pain, Hypercalcemia, Osteoporosis, Hypophosphatemia ORPHA:143
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Carious teeth, Hypoplasia of teeth OMIM:613312
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Glossitis, Hypocalcemia, Hypomagnesemia OMIM:175500
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Hypocalcemia OMIM:606407
Timothy Syndrome
Microdontia, Thin upper lip vermilion, Hypocalcemia OMIM:601005
Gracile Bone Dysplasia
Decreased skull ossification, Ankyloglossia, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Hyperphosphatemia, Hypocal... ORPHA:79444
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal... OMIM:618476
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Gene... ORPHA:85138
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Micrognathia, Alveolar ridge overgrowth, Cleft palate, High palate, Hyp... OMIM:235255
Pheochromocytoma
Hypercalcemia OMIM:171300
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Recurrent aphthous stomatitis, Hypocalcemia, Stomatitis, Enamel hypoplasia OMIM:212750
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Micrognathia, Hypokalemia, High palate, Hypocalcemia OMIM:617913
Pseudohypoparathyroidism Type 1A
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral densi... ORPHA:79443
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Cheilitis, Hypoalbuminemia, ... ORPHA:247353
X-Linked Agammaglobulinemia
Glossoptosis, Sinusitis, Hypocalcemia ORPHA:47
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Gingival overgrowth, Decrease... OMIM:259720
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Microdontia, Increa... ORPHA:904
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia ORPHA:352540
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Craniosyn... ORPHA:2136
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Hyperpho... ORPHA:93325
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... ORPHA:289176
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Micrognathia, Alveolar ridge overgrowth, High palate, Hypocalcemia, Hyp... ORPHA:1655
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Micrognathia, Persistence of primary teeth, A... ORPHA:2785
Double Outlet Right Ventricle
Submucous cleft hard palate, Hypocalcemia, Cleft palate, Narrow mouth ORPHA:3426
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Thick vermilion border, Hypercalcemia ORPHA:653
Glucagonoma
Stomatitis, Glossitis, Hypercalcemia ORPHA:97280
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, H... OMIM:192430
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Congenital Disorder Of Glycosylation, Type Ig
Thin upper lip vermilion, Short philtrum, Hypocalcemia OMIM:607143
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Williams-Beuren Syndrome
Osteopenia, Hypercalcemia, Thick lower lip vermilion, Dental malocclusion, Osteoporosis, Hypodont... OMIM:194050
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Multiple Endocrine Neoplasia Type 1
Gingival fibromatosis, Osteolysis, Hypercalcemia, Reduced bone mineral density ORPHA:652
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Ppoma
Hypercalcemia ORPHA:97278
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Craniosynostosis, Reduced bone minera... ORPHA:667
Cranioectodermal Dysplasia 1
Sagittal craniosynostosis, High, narrow palate, Osteoporosis, Widely spaced teeth, High palate, H... OMIM:218330
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Grfoma
Hypercalcemia ORPHA:97261
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Micrognathia, Hypoplastic frontal sinuses, Cleft palate, Short philtrum... OMIM:300712
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Bacterial Toxic-Shock Syndrome
Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Sarcoidosis
Enlargement of parotid gland, Bone cyst, Hypercalcemia, Parotitis ORPHA:797
Isotretinoin-Like Syndrome
Hypocalcemia, Cleft palate, Micrognathia ORPHA:2306
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Gingival overgrowth, Hypocalcemia, Abnormal bone ossification, Abn... ORPHA:175
Sotos Syndrome
Hypercalcemia, Craniosynostosis, Abnormality of the dentition, No permanent dentition, Delayed er... ORPHA:821
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Reduced bone mineral density, High palate, Hypoalbuminemia, Hypocalcemia, Un... OMIM:613658
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Igg4-Related Thyroid Disease
Sialadenitis, Hypocalcemia ORPHA:64744
22Q11.2 Deletion Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Carious teeth, Cle... ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Cleft palate, Short philtrum, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Cleft palate, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia, Median cleft lip an... ORPHA:699
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef... OMIM:619503
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, High palate, Hypocalcemia, Long philtrum, Malar ... OMIM:620330
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Increased circu... OMIM:619991
Digeorge Syndrome
Micrognathia, High, narrow palate, Cleft palate, High palate, Hypocalcemia, Short philtrum, Recur... OMIM:188400
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Sinusitis ORPHA:83471
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Agenesis of permanent te... OMIM:243800
Charge Syndrome
Micrognathia, Cleft upper lip, Cleft palate, Hypocalcemia, Malar flattening OMIM:214800

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 Zdhhc20

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 Zdhhc20.

No publications found that use IMPC mice or data for Zdhhc20.

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
Zdhhc20tm209483(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zdhhc20em1(IMPC)Hmgu Exon Deletion Mice
Zdhhc20tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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