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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
Finger syndactyly, Broad-based gait, Broad toe, Short stature, Hypospadias, Abnormal thumb morpho... ORPHA:93932
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... OMIM:113300
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Compulsive behaviors, Atrial septal defect, Micropenis, Hypothalamic lutei... ORPHA:398069
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Dysmetria, Depression, Gait ataxia, Weight loss, Abnormal shoul... ORPHA:157941
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releasing hormone deficiency, ... ORPHA:398079
Dystonia 31
Abnormal posturing, Dysphagia, Difficulty walking, Depression OMIM:619565
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis, Retrognathia OMIM:618022
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Septooptic Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:182230
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Compulsive ... ORPHA:177907
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Premature adrenarche, Short stature, Preco... ORPHA:739
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Short ... ORPHA:3157
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Rocker bottom foot, Patent foramen ovale, Dysphagia, Atrial septal defect, In... ORPHA:89844
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Panhypophysitis
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... ORPHA:95513
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Small hand, Obesity, Short foot, Attention deficit hyperactivity disorder, ... ORPHA:444002
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Hypospadias, Bowed humerus, Lateral ventricle dilatation, Short lo... OMIM:619479
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland, Delayed puberty, Micropenis OMIM:612702
Cog2-Cdg
Psychomotor deterioration, Small pituitary gland, Decreased liver function ORPHA:435934
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Genu valgum, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Postnatal growth retardatio... ORPHA:391417
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... OMIM:219080
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Me... ORPHA:1827
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... ORPHA:216866
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... ORPHA:453533
Pituitary Carcinoma
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... ORPHA:300385
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... ORPHA:3077
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Proportionat... OMIM:613457
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Elevated hemoglobin A1c, Sh... OMIM:616113
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Overweight, Self-mutilation... ORPHA:457240
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Shyness, Bilateral cryptorchidism, Chiari type I malformation, Atr... ORPHA:466791
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Ventricular septal defect,... OMIM:617751
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Small pituitary gland OMIM:617395
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Mohr-Tranebjaerg Syndrome
Mental deterioration, Abnormal posturing, Dysphagia OMIM:304700
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kid... ORPHA:464306
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:615926
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Methylmalonic aciduria, Growth delay, Normochromic anemia, Neutropenia, Atrial se... OMIM:614857
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Failure to thrive, Syndactyly, Short stature, Anterior p... OMIM:151050
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... ORPHA:264200
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Vici Syndrome
Lymphopenia, Failure to thrive, Cerebellar vermis hypoplasia, Recurrent respiratory infections, P... OMIM:242840
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Cerebellar vermis hypo... OMIM:619476
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Brachydactyly OMIM:614592
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Overlapping fingers, Short stature, Decreased r... OMIM:619004
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Mirage Syndrome
Overlapping fingers, Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Hypospadi... OMIM:617053
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Depression, Increased circulating ... OMIM:615830
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele OMIM:614195
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short fourth metatarsal, Cerebellar vermis hypoplasia, Anterior pitu... OMIM:619841
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Severe B lymp... ORPHA:293978
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Increased circulating gon... ORPHA:8
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplastic scapulae, Abnormal dental enamel mo... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
48,Xxxy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Down-sloping shoulders, Coxa valga, Crypto... ORPHA:96263
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Carious teeth, Micrognathia, Apl... OMIM:265800
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... OMIM:236680
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis... ORPHA:563612
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... ORPHA:91351
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Urinary incontinence, Recurrent upper respiratory tract infections, Gait at... ORPHA:225147
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Ventricular septal defect, Anterior pituitary hypoplasia, Short st... OMIM:206900
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Retrognathia, Finger joi... OMIM:212112
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... ORPHA:90793
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Sin... OMIM:601186
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,... OMIM:615849
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, Short 4th metacarpal, Short clavicles OMIM:606220
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Inability to walk, Depression, Dysphagia, Abnormal posturing OMIM:128100
Melnick-Needles Syndrome
Delayed eruption of teeth, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, C... ORPHA:2484
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Hip dysplasia, Abnormal temper tantrums... ORPHA:530983
Restrictive Dermopathy 2
Microretrognathia, Overtubulated long bones, Short clavicles OMIM:619793
Holoprosencephaly 9
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... OMIM:610829
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Abnormal social behavior, Carcinoid tum... ORPHA:805
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Ve... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Ve... ORPHA:353277
Gracile Bone Dysplasia
Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Micropenis, Slender long bone, Hypopla... OMIM:602361
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Purple urine, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced b... ORPHA:100924
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavi... ORPHA:309246
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Calcaneovalgus defo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Calcaneovalgus defo... ORPHA:363958
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Short d... ORPHA:1512
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Abnorma... ORPHA:353281
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... OMIM:615777
Hydranencephaly
Postnatal growth retardation, Dilatation of the ventricular cavity, Thalamic edema, Intrauterine ... ORPHA:2177
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Niemann-Pick Disease Type C
Bone-marrow foam cells, Progressive neurologic deterioration, Abnormal lung morphology, Progressi... ORPHA:646
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmo... OMIM:611812
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increased circulating... ORPHA:90791
Metachromatic Leukodystrophy, Adult Form
Short attention span, Urinary incontinence, Progressive psychomotor deterioration, Depression, Me... ORPHA:309271
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Slender long bone, Increased serum testosterone level, Intrauterine growth reta... ORPHA:96181
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Small hand, Short clavicles, Tapered finger ORPHA:401923
Mend Syndrome
Hyperactivity, Short stature, Broad hallux, Overlapping toe, Aggressive behavior, Cryptorchidism,... ORPHA:401973
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Delayed eruption of primary teeth, Micrognathia, Short middle phalanx of th... OMIM:119600
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... OMIM:613677
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... ORPHA:90790
Xylt1-Cdg
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... ORPHA:370930
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Short clavicles, Steep acetabu... ORPHA:313855
Van Den Ende-Gupta Syndrome
Hallux valgus, Hypoplastic scapulae, Glenoid fossa hypoplasia, Arachnodactyly, Distal ulnar hypop... OMIM:600920
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Urethral atresia, Pulmonary hypopla... OMIM:273395
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Urinary incontinence, Progressive psychomotor deterioration, Progressive ga... ORPHA:309263
Enlarged Parietal Foramina
Broad thumb, Short clavicles ORPHA:60015
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn... OMIM:309350
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Small cerebellar cortex, Adrenal hyperplasia, ... ORPHA:79500
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Micrognathia, Flared ... ORPHA:50945
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Dysmetria, Nephrocalcinosis, Compulsive... ORPHA:904
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Short clavicles OMIM:619322
Childhood Absence Epilepsy
Urinary incontinence, Depression, Punding, Attention deficit hyperactivity disorder, Abnormal soc... ORPHA:64280
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Emotiona... ORPHA:309256
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased circulating dehy... OMIM:201810
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytop... OMIM:185070
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Aplastic clavicle, Carious teeth, Bifid femur, Aplasia/hypoplasia of the f... ORPHA:2769
Van Maldergem Syndrome 1
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Cutaneous ... OMIM:601390
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Hypoplasia of teeth, Osteolytic defects of the distal phalanges of the hand, Short ... OMIM:608612
Mandibuloacral Dysplasia
Micrognathia, Hypoplasia of teeth, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:2457
Van Maldergem Syndrome 2
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Cutaneous ... OMIM:615546
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Patellar apl... ORPHA:2554
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Short clavicl... OMIM:617746
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Abnormality of the temporomandibular joint, Bowing of the l... ORPHA:536471
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Bowing of the legs, Hypoplasia of t... OMIM:200600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long peni... OMIM:202010
Mandibuloacral Dysplasia With Type A Lipodystrophy
Down-sloping shoulders, Micrognathia, Coxa valga, Hypoplasia of teeth, Short clavicles, Osteolyti... OMIM:248370
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, D-2-h... ORPHA:99646
Occipital Horn Syndrome
Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa... ORPHA:198
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Micrognathia, Coxa va... OMIM:130070
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Sp... ORPHA:2092
Sandifer Syndrome
Abnormal posturing, Anemia ORPHA:71272
Chime Syndrome
Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl... ORPHA:3474
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Sifrim-Hitz-Weiss Syndrome
Short femoral neck, Short clavicles, Flat acetabular roof, Tapered finger OMIM:617159
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, A... ORPHA:2658
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... ORPHA:2538
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Micrognathia, Lar... ORPHA:2636
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis, Pulmonary arteriovenous malformation, Abnormal heart ... ORPHA:268943
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Flared iliac wing, Short clavic... OMIM:607014
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Inability to walk, Irritability, Uraciluria, Abnormal social behavior, Abno... ORPHA:1675
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Abnormal dental enamel morphology, Aplastic clavicle, Micrognathia ORPHA:85199
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Cerebellar hypoplasia, Nonprogressive cere... ORPHA:314647
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Supernumerary tooth, Postaxial hand polydactyly, Cone-shaped epiphysis, Sh... OMIM:617088
Floating-Harbor Syndrome
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Carious teeth, Short middle p... OMIM:136140
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Aplastic clavicle OMIM:616546
Yunis-Varon Syndrome
Congenital hip dislocation, Micrognathia, Short metatarsal, Absent hallux, Aplastic clavicle, Tap... OMIM:216340
Cdags Syndrome
Short clavicles OMIM:603116
Floating-Harbor Syndrome
Short metacarpal, Brachydactyly, Persistence of primary teeth, Hypoplasia of the maxilla, Carious... ORPHA:2044
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu valgum, Short clav... OMIM:304150
Restrictive Dermopathy 1
Natal tooth, Rocker bottom foot, Micrognathia, Temporomandibular joint ankylosis, Overtubulated l... OMIM:275210
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Persistence of primary teeth, Micrognathia, Coxa valga, Hip dislocatio... ORPHA:740
Microphthalmia, Syndromic 1
Syndactyly, Down-sloping shoulders, Agenesis of maxillary lateral incisor, Short clavicles, Radia... 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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