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Gene: Zfp521 MGI:95459

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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 protein 521
Synonyms:
Evi3,  B930086A16Rik

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 Zfp521 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 Zfp521 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fg Syndrome Type 1
Small pituitary gland, Broad-based gait, Finger syndactyly, Clinodactyly of the 2nd finger, Slend... ORPHA:93932
Brachydactyly, Type E1
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ... OMIM:113300
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased... ORPHA:398069
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Huntington Disease-Like 1
Depression, Cerebellar atrophy, Abnormal posturing, Memory impairment, Abnormal shoulder morpholo... ORPHA:157941
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... OMIM:612079
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cry... ORPHA:398079
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Genu v... OMIM:620099
Dystonia 31
Difficulty walking, Depression, Dysphagia, Abnormal posturing OMIM:619565
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... ORPHA:54595
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Hypoplastic pelvis, Short clavicles, Bowed humerus OMIM:618022
Septooptic Dysplasia
Short finger, Decreased response to growth hormone stimulation test, Agenesis of corpus callosum,... OMIM:182230
Prader-Willi Syndrome Due To Translocation
Small hand, Lateral ventricle dilatation, Clinodactyly, Overlapping toe, Anterior pituitary hypop... ORPHA:177907
Prader-Willi Syndrome
Premature adrenarche, Small hand, Central adrenal insufficiency, Cryptorchidism, Polyphagia, Shor... ORPHA:739
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Cryptorchidism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cereb... ORPHA:3157
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Intrauterine growth retardation, Patent foramen ovale, Agenesis of corpus cal... ORPHA:89844
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98754
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Agenesis of... ORPHA:226307
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar... OMIM:620501
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Polydipsia, Adrenocorticotropin d... ORPHA:95513
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Genu valgum, Cryptorchidism, Micropenis OMIM:614880
11Q22.2Q22.3 Microdeletion Syndrome
Small hand, Obesity, Short attention span, Attention deficit hyperactivity disorder, Brachydactyl... ORPHA:444002
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Disprop... OMIM:619479
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis OMIM:612702
Cog2-Cdg
Small pituitary gland, Psychomotor deterioration, Decreased liver function ORPHA:435934
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Aspiration pneumonia, Inability to walk, Attention deficit hype... ORPHA:216866
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Depression, Increased circulating cortisol level, Decreased circulating ACT... OMIM:219080
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... ORPHA:1827
Pallister-Hall-Like Syndrome
Hip dislocation, Toe syndactyly, Occipital encephalocele, Postaxial foot polydactyly, Chiari type... OMIM:241800
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Postnatal growth re... ORPHA:391417
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... ORPHA:453533
Meningioma
Increased circulating prolactin concentration, Difficulty walking, Emotional lability, Neoplasm o... ORPHA:2495
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Pituitary Carcinoma
Ataxia, Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulat... ORPHA:300385
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Chromosome 14Q11-Q22 Deletion Syndrome
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryp... OMIM:613457
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Cer... ORPHA:457240
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Slender build, Cryptorchidism, Ventricular septal defect, Atrial septal def... ORPHA:466791
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... OMIM:618157
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Recurrent pneumonia, Dysgenesis of the cerebellar vermis, Lateral v... OMIM:617751
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated circulating hepatic transaminase concentration OMIM:617395
Mohr-Tranebjaerg Syndrome
Mental deterioration, Dysphagia, Abnormal posturing OMIM:304700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Mem... ORPHA:189427
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Hypospadias, Broad-based gait, Broad thumb, Growth delay, Abnormal heart... OMIM:300978
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Abnormal posturing, Cryptorchidism, At... OMIM:614857
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,... ORPHA:464306
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyp... OMIM:151050
Sheehan Syndrome
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:91355
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Cryptorchidism, Agenes... ORPHA:264200
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... OMIM:173100
Vici Syndrome
Cerebellar vermis hypoplasia, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Abnormal... OMIM:242840
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Cholestasis, Internally rotated shoulders, Hepatosplenomegaly, Cryptorchidism, ... OMIM:619503
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... ORPHA:293978
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia,... OMIM:619476
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Short clavicles, Brachydactyly, Hypoplastic pubic bone, Bent long bone OMIM:614592
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Mirage Syndrome
Hypospadias, Microphallus, Aspiration pneumonia, Radial club hand, Lymphopenia, Decreased testicu... OMIM:617053
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Lateral ventricle dilatation, Cholestasis,... OMIM:619534
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Hydrocephalus, Nasofrontal encephalocele OMIM:614195
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Chiari malformation, Clinod... ORPHA:95699
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased circulating cortisol level, Primary hypercortisolism, Emotional lability, A... OMIM:615830
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cryptorchidism, Agenesis of corpus callosum, Chordee, Anterior pituitary hypoplasia, Hypospadias,... OMIM:619841
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... ORPHA:2232
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Finger clinodactyly, Cerebellar dysplasia, Cryptorchidism, R... ORPHA:8
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Cari... ORPHA:1452
Childhood Disintegrative Disorder
Mental deterioration, Dementia, Abnormal emotion, Reduced social reciprocity, Motor deterioration... ORPHA:168782
Marden-Walker Syndrome
Renal hypoplasia, Inferior cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauteri... OMIM:248700
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of... OMIM:265800
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal lung lobation, Preaxial hand polydactyly, Upper limb undergrowth, Intr... OMIM:236680
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Abnormal posturing, Gait ataxia, Short attention sp... ORPHA:225147
48,Xxxy Syndrome
Hypoplasia of penis, Hip dislocation, Abnormal epiphysis morphology, Hypogonadism, Decreased test... ORPHA:96263
Isolated Exencephaly
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Maternal diabetes, Anterior pi... ORPHA:563612
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Postaxial polydactyly... OMIM:615849
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal def... OMIM:206900
Microphthalmia, Syndromic 9
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic sp... OMIM:601186
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Retrognathia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joi... OMIM:212112
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Ve... ORPHA:369929
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Short thumb, Overlapping toe, Distally placed thumb, Cryptorchidism, E... OMIM:619148
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short clavicles, Short 4th metacarpal, Microretrognathia OMIM:606220
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Cerebellar hypoplasia, Renal cyst, 2-3 toe ... OMIM:236500
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Delayed eruption of teeth, Micrognathia, Abnorma... ORPHA:2484
Dystonia 1, Torsion, Autosomal Dominant
Depression, Cerebellar atrophy, Abnormal posturing, Inability to walk, Dysphagia OMIM:128100
Restrictive Dermopathy 2
Short clavicles, Microretrognathia, Overtubulated long bones OMIM:619793
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Chiari malformation, Postnatal growth retardation, Cryptorchi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Chiari malformation, Postnatal growth retardation, Cryptorchi... ORPHA:353277
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hyperc... ORPHA:251274
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Gracile Bone Dysplasia
Failure to thrive, Slender long bone, Flared metaphysis, Short stature, Hydrocephalus, Brachydact... OMIM:602361
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Ataxia, Hip dysplasia... ORPHA:530983
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hepatomegaly,... ORPHA:699
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Polycysti... ORPHA:805
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... OMIM:615954
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Purple urine, Difficulty walking, Confu... ORPHA:100924
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Cryptorchidism, Hepatic steatosis, Ventricular septa... OMIM:270400
Mosaic Trisomy 1
Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus callosum, Ventric... ORPHA:1692
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Micropenis, Anterior pituitary hypoplasia OMIM:619983
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Ante... OMIM:181450
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ... ORPHA:99889
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Chiari malformation, Emotional lability, Cryptorchidism, Vent... ORPHA:353281
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Cognitive i... ORPHA:309246
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Postnatal growth retardation, Cryptorchidism, Overfriendliness, Agenesis of corpus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Postnatal growth retardation, Cryptorchidism, Overfriendliness, Agenesis of corpus... ORPHA:363958
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Cushing Disease
Depression, Memory impairment, Increased circulating cortisol level, Increased urinary cortisol l... ORPHA:96253
Holoprosencephaly 9
Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu... OMIM:610829
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Dilatation of the ventricular cavity, Postn... ORPHA:2177
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Short clavicles,... OMIM:615777
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi... OMIM:611812
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ser... ORPHA:96181
Niemann-Pick Disease Type C
Mental deterioration, Aspiration pneumonia, Hepatosplenomegaly, Cognitive impairment, Ataxia, Hep... ORPHA:646
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Decreased response t... ORPHA:90695
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Difficulty walking, Dementi... ORPHA:309271
Mend Syndrome
Aortic valve stenosis, Wide anterior fontanel, Failure to thrive, Broad hallux, Abnormal heart mo... ORPHA:401973
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Small hand, Mandibular prognathia, Tapered finger ORPHA:401923
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Ureteral agenesis, Myelomeningocele, Hydro... ORPHA:2437
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Hepatomegaly, Short foot, Holoprosencephaly, Sho... OMIM:269860
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated... OMIM:620642
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Apl... OMIM:609945
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... OMIM:119600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive, Hyperactive renin-angiotensin system, Abnormal circulating androgen... ORPHA:90790
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses... OMIM:208500
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Chiari malformation, Clinodactyly, Abnormali... OMIM:249000
Distal Deletion 15Q
Multicystic kidney dysplasia, Small hand, Postnatal growth retardation, Genu valgum, Cryptorchidi... ORPHA:1596
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Abnormal cartilage matrix, Intrauterine growth retardation, Epiph... ORPHA:86822
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... OMIM:613677
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Natal tooth, Steep acetabular roof, Micrognathia, Short clavicl... ORPHA:313855
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Splenomegaly, Tibial bowing, Lower limb undergrow... ORPHA:3035
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Cryptorchidism, Hip contracture, Agenesis of corp... ORPHA:85201
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilata... OMIM:620371
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Short clavicles, Short long bone, Short femoral nec... ORPHA:370930
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Horseshoe kidney, Intrauterine growth reta... ORPHA:2470
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... ORPHA:231580
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
Van Den Ende-Gupta Syndrome
2-3 toe cutaneous syndactyly, Hypoplastic scapulae, Long metacarpals, Hypoplasia of the maxilla, ... OMIM:600920
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... ORPHA:1335
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Encephalocele, Bowing of the long... ORPHA:90652
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Cerebellar vermis hypoplasia, Polysyndactyly of hallux, Lateral ventricle dilat... OMIM:263520
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Chiari malformation, Abnormality of the ureter, Renal ins... ORPHA:3027
Alg9-Cdg
Ventricular septal defect, Atrial septal defect, Broad ischia, Hepatomegaly, Abnormal heart morph... ORPHA:79328
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, ... OMIM:615503
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hypersplenism, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatoblastoma, Cogn... ORPHA:731
Meckel Syndrome, Type 6
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Horseshoe kidney, Absent g... OMIM:612284
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Meier-Gorlin Syndrome 7
Cryptorchidism, Decreased body weight, Urethral stricture, Ventricular septal defect, Aplasia/Hyp... OMIM:617063
Tetraamelia Syndrome 1
Hypoplastic pelvis, Adrenal gland agenesis, Urethral atresia, Hydrocephalus, Asplenia, Peripheral... OMIM:273395
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Single ventricle, 2-5 finger syndactyly, Thyroid hypopla... OMIM:308050
Enlarged Parietal Foramina
Short clavicles, Broad thumb ORPHA:60015
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Cholecystitis, P... ORPHA:309263
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo... OMIM:219090
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Delayed eruption of teeth, Flared metaphysi... OMIM:309350
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Hypoplasia of the pons, Cerebellar atrophy, Lymphopenia, Overlapping fing... OMIM:619708
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Delayed eruption of primary teeth, Short clavicles, Femur fracture OMIM:619322
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Nephrocalcinosis, Short dist... ORPHA:79500
Blomstrand Lethal Chondrodysplasia
Aplastic clavicle, Metaphyseal cupping, Abnormal epiphysis morphology, Natal tooth, Flared metaph... ORPHA:50945
Williams Syndrome
Chiari malformation, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Po... ORPHA:904
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... OMIM:263200
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic sp... OMIM:185070
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Aplasia/hy... ORPHA:2769
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Urinary incontinence, Abnormal soc... ORPHA:64280
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Cholecystitis, Progressive gait ataxia, Urinary in... ORPHA:309256
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Clinodactyly, Cutaneous finger syndactyly, Microg... OMIM:601390
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Short clavicles, Acroosteolysis of distal phalanges (feet), Osteolytic defects of t... OMIM:608612
Mandibuloacral Dysplasia
Micrognathia, Short clavicles, Acroosteolysis of distal phalanges (feet), Osteolytic defects of t... ORPHA:2457
Fryns Syndrome
Hypospadias, Short distal phalanx of finger, Chylothorax, Prominent fingertip pads, Polysplenia, ... OMIM:229850
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Cutaneous syndactyly of toes, Dental malocclusion, Clinodactyly, Cutan... OMIM:615546
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Slender long bone, R... ORPHA:2554
Spondylodysplastic Ehlers-Danlos Syndrome
Hypoplastic ilia, Flared metaphysis, Slender long bones with narrow diaphyses, Abnormality of the... ORPHA:536471
Sweeney-Cox Syndrome
Short distal phalanx of finger, Micrognathia, 2-4 finger syndactyly, Short clavicles, 2-5 finger ... OMIM:617746
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Abnormal heart morphology, Tetr... ORPHA:3384
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morph... ORPHA:3310
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... OMIM:202010
Achondrogenesis, Type Ia
Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bowing of the arm, Short clavicles,... OMIM:200600
Sandifer Syndrome
Anemia, Abnormal posturing ORPHA:71272
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal dysplasia, Genu varum, Multiple enchondromatosis, Metaphyseal irregularity, Short pha... ORPHA:99646
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Occipital Horn Syndrome
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Flared metaphysis, Micrognathia, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones,... OMIM:130070
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Scimitar Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormal heart morphology... ORPHA:185
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Micrognathia, Down-sloping shoulders, Short clavicles, Acroosteol... OMIM:248370
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Congenital alveo... OMIM:608978
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Micrognathia, Ulnar deviation of thumb, Radio... OMIM:142900
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Abnormal metacarpal morp... ORPHA:2538
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... ORPHA:991
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Unilateral Polymicrogyria
Abnormal heart morphology, Pseudobulbar paralysis, Abnormal posturing, Pulmonary arteriovenous ma... ORPHA:268943
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Flat acetabular roof, Short femoral neck, Tapered finger OMIM:617159
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, A... ORPHA:2658
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Retrognathia, Abnormal distal pha... ORPHA:2636
Neu-Laxova Syndrome 1
Hydranencephaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Int... OMIM:256520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Disproportionate short-limb short stature, Abnormal pelvis bone ossification, P... ORPHA:93271
Hurler Syndrome
Hypoplasia of the femoral head, Short clavicles, Flared iliac wing, Metaphyseal widening, Diaphys... OMIM:607014
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Aplastic clavicle, Tarsal synostosis, Micrognathia ORPHA:85199
Genitopatellar Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Inferior pubic ramus hypoplasia, Crypto... OMIM:606170
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Inability to walk, Irritability, Uraciluria, Abnormal aggressive, impulsive... ORPHA:1675
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Dysmetria, Cerebellar hypoplasia, Aggressive behavior, Ataxia, Unsteady gait, ... ORPHA:314647
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... OMIM:617088
Floating-Harbor Syndrome
Broad thumb, Short 1st metacarpal, Carious teeth, Ivory epiphyses of the distal phalanges of the ... OMIM:136140
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Postnatal growth r... ORPHA:3404
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly OMIM:616546
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Flat acetabular roof, Hip dislo... OMIM:216340
Cdags Syndrome
Short clavicles OMIM:603116
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Clinodactyly, Short thumb, Avascular necrosis of the ca... ORPHA:2044
Occipital Horn Syndrome
Genu valgum, Short humerus, Short clavicles, Capitate-hamate fusion, Pelvic bone exostoses, Coxa ... OMIM:304150
Restrictive Dermopathy 1
Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Mic... OMIM:275210
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Delayed eruption of teeth, Impacted tooth, Persistence of primary teeth, Micrognath... ORPHA:740
Microphthalmia, Syndromic 1
Prominent fingertip pads, Clinodactyly, Radial deviation of finger, Down-sloping shoulders, Short... OMIM:309800

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 Zfp521

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 Zfp521.

No publications found that use IMPC mice or data for Zfp521.

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
Zfp521tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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