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Gene: Zfp445 MGI:2143340

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Gene Summary

Name:
zinc finger protein 445
Synonyms:
ZNF168

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 Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 4.94×10-07
decreased grip strength Zfp445tm1b(EUCOMM)Hmgu HET Early adult 5.35×10-06
abnormal brain morphology Zfp445tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal auditory brainstem response Zfp445tm1b(EUCOMM)Hmgu HET   Early adult 0.0314
increased red blood cell distribution width Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 5.31×10-08
preweaning lethality, incomplete penetrance Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 0.00459

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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.

Electrocardiogram (ECG)

Waveform Image

42 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Zfp445 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 Zfp445 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Hypophosphatasia, Infantile
Stillbirth, Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombo... OMIM:259720
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic anemia ORPHA:199299
Mastocytosis
Chronic leukemia, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Normocytic anemia, Hypercalcemia,... ORPHA:95409
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Addison Disease
Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperuricemia, Increased circulating reni... ORPHA:85138
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Neutropenia, Anemia ORPHA:47
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Erythroid ... ORPHA:79277
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Pheochromocytoma
Hypercalcemia OMIM:171300
Timothy Syndrome
Hypocalcemia OMIM:601005
Glucagonoma
Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia, Anemia OMIM:127000
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Ppoma
Hypercalcemia ORPHA:97278
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia OMIM:212750
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Pancytopenia, Hyp... ORPHA:699
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Hypercalcemia, Anemia, Leukopenia, Eo... ORPHA:797
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Hypoalbuminemia, Anemia OMIM:613658
Williams Syndrome
Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating lipid con... ORPHA:904
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Visceral Steatosis, Congenital
Hypocalcemia, Neonatal death OMIM:228100
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Anemia ORPHA:175
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hyperkalemia ORPHA:544482
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Gitelman Syndrome
Iron deficiency anemia, Hypocalcemia, Hypermagnesemia, Hypokalemia, Hypomagnesemia ORPHA:358
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Anemia, Splenomegaly ORPHA:667
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Anemia, Hypocalcemic tetany ORPHA:93325
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypocalcemia, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Digeorge Syndrome
Hypocalcemia OMIM:188400
Charge Syndrome
Hypocalcemia, Lymphopenia OMIM:214800
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Zfp445

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 Zfp445.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ZNF445 is a primary regulator of genomic imprinting. Genes & development (January 2019) Zfp445tm1a(EUCOMM)Hmgu PMC6317318

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MGI Allele Allele Type Produced
Zfp445tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Zfp445tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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