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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Brachydactyly, Type E1
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... OMIM:113300
Fg Syndrome Type 1
Slender build, Broad-based gait, Hydrocephalus, Abnormal cerebellum morphology, Atrial septal def... ORPHA:93932
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Magel2-Related Prader-Willi-Like Syndrome
Hypogonadism, Increased body weight, Skin-picking, Abdominal obesity, Precocious puberty, Small p... ORPHA:398069
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Retrognathia, Hypoplastic scapulae, Hypoplastic pelvis, Bowed humerus OMIM:618022
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadism, Skin-picking, Abdominal obesity, Precocious puberty, Small pituitary gland, Hypogon... ORPHA:398079
Huntington Disease-Like 1
Dementia, Dysmetria, Cognitive impairment, Depression, Memory impairment, Gait disturbance, Gait ... ORPHA:157941
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Short stature, Polydactyly, Diabetes insip... OMIM:182230
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Abnormal social behavior, Clinodactyly of the 4th finger, Impaired social interac... ORPHA:177907
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Genu valgum, Decreased testicular size, Cryptorchidism OMIM:614880
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Craniopharyngioma
Growth delay, Hydrocephalus, Type II diabetes mellitus, Postnatal growth retardation, Abnormal hy... ORPHA:54595
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrop... OMIM:613038
Prader-Willi Syndrome
Central adrenal insufficiency, Decreased inhibin B level, Hypogonadism, Abdominal obesity, Precoc... ORPHA:739
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, Ab... ORPHA:226307
Dystonia 31
Depression, Difficulty walking, Abnormal posturing OMIM:619565
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central adrenal insufficiency, Decreased inhibin B level, Skin-picking, Precocious puberty, Self-... ORPHA:98754
Primary Pigmented Nodular Adrenocortical Disease
Emotional lability, Increased body weight, Nephrolithiasis, Abdominal obesity, Pigmented micronod... ORPHA:189439
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central adrenal insufficiency, Decreased inhibin B level, Skin-picking, Precocious puberty, Self-... ORPHA:98793
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Small pituitary gland OMIM:617395
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central adrenal insufficiency, Decreased inhibin B level, Skin-picking, Precocious puberty, Self-... ORPHA:177904
11Q22.2Q22.3 Microdeletion Syndrome
Clinodactyly of the 5th finger, Poor eye contact, Abnormal social behavior, Small hand, Anxiety, ... ORPHA:444002
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central adrenal insufficiency, Decreased inhibin B level, Skin-picking, Precocious puberty, Self-... ORPHA:177901
Cog2-Cdg
Decreased liver function, Psychomotor deterioration, Small pituitary gland ORPHA:435934
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland, Micropenis OMIM:612702
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary axis, Maternal diab... ORPHA:3157
Prader-Willi-Like Syndrome
Central adrenal insufficiency, Decreased inhibin B level, Skin-picking, Abnormality of the endocr... ORPHA:398073
Meningioma
Hydrocephalus, Ataxia, Decreased circulating cortisol level, Neoplasm of the posterior pituitary,... ORPHA:2495
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Adducted thumb, Patent foramen ovale, Hypoplastic spleen, Rocker bottom foo... ORPHA:89844
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Retrognathia, Short clavicles, Down-sloping shoulders OMIM:212112
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Ataxia, Enlarged pituitary gland, Elevated circulating gro... ORPHA:300385
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Cryptorchidism, Hypopituitarism, Meningocele, Patellar hypoplasi... ORPHA:1827
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Ventricular septal defect, Shyness, Bilateral cryptorchidism, Slender build, Dysplastic c... ORPHA:466791
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... ORPHA:453533
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Depression, Mental deterioration, Anxiety, Truncal obesity,... OMIM:219080
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Self-mutilation, Micropenis, Depression, H... ORPHA:457240
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Intrauterine growth retardation, Clinodactyly of the 5th finger, Hyper... ORPHA:464306
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Impaired growth-horm... OMIM:618157
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... ORPHA:231720
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Cognitive impairment, Aspiration pneumonia, Gait disturbance, At... ORPHA:216866
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone sup... ORPHA:189427
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
14Q22Q23 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Cryptorchidism, Short stature, Anterior pituit... ORPHA:264200
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Short stature, Pituitary dwarfism, Anterio... OMIM:221750
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Penile hypospadias, Cerebellar vermis hypoplasia... OMIM:242840
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Atrial septal defect, Methylmalonic aciduria, Homocystinuria, Neutropenia, Gro... OMIM:614857
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Depression, Fatigable weakness, Anxiety... ORPHA:255
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Short long bone, Micropenis, Small pituitary gland, Hy... OMIM:619479
Chilton-Okur-Chung Neurodevelopmental Syndrome
Slender finger, Short fourth metatarsal, Cone-shaped epiphysis, Broad finger, Tapered finger, Int... OMIM:619841
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the maxilla, Sho... OMIM:300106
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Infe... OMIM:619476
Hsd10 Disease
Ataxia, Abnormal social behavior, Abnormal urinary acylglycine profile, Gait disturbance, Elevate... ORPHA:391417
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Small pituitary gland, Streak ovary, ... ORPHA:2232
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Decreased response to gro... OMIM:619004
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Depression, Adrenal hyperplasia, Primary hypercortisolism, ... OMIM:615830
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Agene... OMIM:613153
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Hy... OMIM:169550
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Hypospadias, Accessory spleen, Anencephaly, Severe hydrocephalus, Arrh... OMIM:236680
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Decreased circulating androgen concentration, Decreased circulating cortisol level... ORPHA:95699
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Slender finger, Muscular ventricular septal defect, Cholestasis, Falls, Tapered finger, Ventricul... OMIM:619503
Isolated Exencephaly
Holoprosencephaly, Maternal diabetes, Aplasia/Hypoplasia of the cerebellum, Posterior pituitary a... ORPHA:563612
47,Xyy Syndrome
Increased serum testosterone level, Hydrocephalus, Hyperactivity, Impulsivity, Cryptorchidism, Mi... ORPHA:8
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Micropenis, Hypospadias, Short stature, Hypogonadotropic hypogonadism, Ve... OMIM:206900
Mirage Syndrome
Adrenal insufficiency, Hydrocephalus, Decreased body weight, Lymphopenia, Short stature, Aspirati... OMIM:617053
Mohr-Tranebjaerg Syndrome
Mental deterioration, Abnormal posturing OMIM:304700
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Cleidocranial Dysplasia
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Supernumerary tooth, Micrognathia, Do... ORPHA:1452
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Pycnodysostosis
Persistence of primary teeth, Micrognathia, Narrow iliac wing, Brachydactyly, Carious teeth, Apla... OMIM:265800
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
48,Xxxy Syndrome
Clinodactyly of the 5th finger, Type II diabetes mellitus, Hypoplasia of penis, Irritability, Abn... ORPHA:96263
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anter... ORPHA:91350
Culler-Jones Syndrome
Short stature, Postaxial polydactyly, Micropenis, Hypopituitarism, Ectopic posterior pituitary, H... OMIM:615849
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... OMIM:601186
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular sept... OMIM:181450
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Ly... ORPHA:96253
Restrictive Dermopathy 2
Short clavicles, Microretrognathia, Overtubulated long bones OMIM:619793
Holoprosencephaly 9
Hydrocephalus, Cryptorchidism, Decreased response to growth hormone stimulation test, Holoprosenc... OMIM:610829
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short clavicles, Microretrognathia, Short 4th metacarpal OMIM:606220
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Dilatation of... ORPHA:2177
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Hyperactivity, Abnormal social behavior, Anxiety, Aggressive behavior ORPHA:101039
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Dilated fourth ventricle, I... ORPHA:370022
Bent Bone Dysplasia Syndrome 1
Micrognathia, Short clavicles, Brachydactyly OMIM:614592
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Athetosis, Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating ... ORPHA:369929
Gracile Bone Dysplasia
Failure to thrive, Hydrocephalus, Micropenis, Short stature, Flared metaphysis, Brachydactyly, Sl... OMIM:602361
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent streptococcus pneumoniae infections, Inappropriate crying, Urinary incontinence, Recurr... ORPHA:225147
Pearson Syndrome
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Hepatic failure, Glycosuria, Proteinuria... ORPHA:699
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... ORPHA:91351
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Micropenis OMIM:619983
Crane-Heise Syndrome
Short distal phalanx of finger, Micrognathia, Aplastic clavicle, Hypoplastic scapulae, Finger syn... ORPHA:1512
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short humerus, Short femoral neck, Prominent deltoid tuberosities, Amelogenesis ... OMIM:610319
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Prominent fingertip pads, Abnormal social behavior, Ventricular septal defect, Cal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Prominent fingertip pads, Abnormal social behavior, Ventricular septal defect, Cal... ORPHA:363958
Tuberous Sclerosis Complex
Abnormal social behavior, Hepatic cysts, Stage 5 chronic kidney disease, Self-injurious behavior,... ORPHA:805
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Short clavicles, Toe clinodactyly, S... OMIM:615777
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Depression, Macronodular adrenal hyperpl... OMIM:615954
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Dystonia 1, Torsion, Autosomal Dominant
Depression, Inability to walk, Cerebellar atrophy, Abnormal posturing OMIM:128100
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased response to growth hormone stimulation test, Short stature, Ectopic posterior pituitary... ORPHA:67045
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia, Polydactyly OMIM:616490
Niemann-Pick Disease Type C
Ataxia, Cerebellar vermis atrophy, Hepatomegaly, Hepatic failure, Abnormal social behavior, Menta... ORPHA:646
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypercalciuria, Adrenal hyperplasia, Abnormal circulating renin, Gl... ORPHA:251274
Mend Syndrome
Failure to thrive, Hydrocephalus, Overlapping toe, Hyperactivity, Wide anterior fontanel, 2-3 toe... ORPHA:401973
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased serum testosterone level, D... ORPHA:90791
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Slender long bone, Congenital adrenal hyper... ORPHA:96181
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
9Q31.1Q31.3 Microdeletion Syndrome
Small hand, Mandibular prognathia, Short clavicles, Tapered finger ORPHA:401923
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Radioulnar synos... ORPHA:2307
Cleidocranial Dysplasia 1
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Delayed pubic bone ossification, S... OMIM:119600
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Memory impairment, C... ORPHA:309271
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Agoraphobia, Broad hallux, Ventricular septal defect, Pneumonia, Emotional labi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Agoraphobia, Broad hallux, Ventricular septal defect, Pneumonia, Emotional labi... ORPHA:353277
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary ... OMIM:611812
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia/Hypoplasia of the hallux, Flared iliac ... OMIM:609945
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Mild postnatal growth retardation, Abnormal social behavior, Hip dysplasia ORPHA:530983
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Xylt1-Cdg
Short clavicles, Flared metaphysis, Short femoral neck, Broad thumb, Clinodactyly, Coxa valga, Sh... ORPHA:370930
Van Den Ende-Gupta Syndrome
Dislocated radial head, Long hallux, Short clavicles, 2-3 toe cutaneous syndactyly, Arachnodactyl... OMIM:600920
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Micrognathia, Brachydactyl... ORPHA:313855
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Tetraamelia Syndrome 1
Hydrocephalus, Urethral atresia, Hypoplastic pelvis, Pulmonary hypoplasia, Peripheral pulmonary v... OMIM:273395
Enlarged Parietal Foramina
Short clavicles, Broad thumb ORPHA:60015
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Short distal phalanx of finger, Double outlet ... ORPHA:79500
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... OMIM:309350
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Finger syndactyly, Absent middle phalanx of 3rd finger, Micrognathia, Absent mid... OMIM:308050
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Micrognathia, Flared metaphysis, Aplastic clavicle, Abnormal epiphysis morph... ORPHA:50945
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Cholecystitis, Progressive gait ... ORPHA:309263
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Attention deficit hyperactivity d... ORPHA:64280
Marbach-Rustad Progeroid Syndrome
Eruption failure, Short clavicles, Micrognathia, Delayed eruption of primary teeth, Femur fracture OMIM:619322
Williams Syndrome
Cholelithiasis, Gait imbalance, Ataxia, Abnormal cardiac septum morphology, Abnormal social behav... ORPHA:904
Familial Osteodysplasia, Anderson Type
Clinodactyly of the 5th finger, Failure of eruption of permanent teeth, Carious teeth, Aplastic c... ORPHA:2769
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Cholecystitis, Gait ataxia, Progressive gait ataxia, Emot... ORPHA:309256
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia ORPHA:1020
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Micrognathia, Acroosteolysis of distal phalanges (feet), Short phalanx of finger... OMIM:608612
Mandibuloacral Dysplasia
Short clavicles, Micrognathia, Acroosteolysis of distal phalanges (feet), Osteolytic defects of t... ORPHA:2457
Van Maldergem Syndrome 2
Dental malocclusion, Short clavicles, Short fourth metatarsal, Micrognathia, Hypoplasia of the ma... OMIM:615546
Sweeney-Cox Syndrome
Micrognathia, Cutaneous syndactyly, Short clavicles, Long fingers OMIM:617746
Van Maldergem Syndrome 1
Dental malocclusion, Short clavicles, Short fourth metatarsal, Micrognathia, Hypoplasia of the ma... OMIM:601390
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Retrognathia, Micrognathia, Camptodactyly of finger, Slender long... ORPHA:2554
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Short stature, Eleva... OMIM:202010
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lymphangioma, Broad carpal bones, Metaphyseal chondromatosis of femur, Subarterial ventricular se... ORPHA:99646
Spondylodysplastic Ehlers-Danlos Syndrome
Metaphyseal dysplasia, Short clavicles, Flat capital femoral epiphysis, Slender long bones with n... ORPHA:536471
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Short clavicles, Micrognathia, Down-sloping shoulders, Acroosteol... OMIM:248370
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Dislocated radial head, Short clavicles, Coxa valga, Arachnodactyly, Micrognathia, Flared metaphy... OMIM:130070
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
Focal Dermal Hypoplasia
Short clavicles, Finger syndactyly, Split foot, Hand polydactyly, Camptodactyly of finger, Hypopl... ORPHA:2092
Achondrogenesis, Type Ia
Bowing of the legs, Short clavicles, Hypoplasia of the radius, Bowing of the arm, Hypoplastic sca... OMIM:200600
Sandifer Syndrome
Anemia, Abnormal posturing ORPHA:71272
Chime Syndrome
Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Abnormal... ORPHA:3474
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Hypospadias, Premature pubarche, Micropenis OMIM:201810
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of finger, Finger syndactyly, Abnormal metaphysis morphology, Brachydactyly, Symphala... ORPHA:2658
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of finger, Clinodactyly of the 5th finger, Large iliac wing, Retrognathia, Micrognath... ORPHA:2636
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Abnormal morphology... ORPHA:2538
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Cerebellar hypopla... ORPHA:314647
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Micrognathia, Abnormal dental enamel morphology, Tarsal synostosis ORPHA:85199
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Inability to walk, Uraciluria, Abnormal social behavior, Abnormal aggressiv... ORPHA:1675
Cog1-Cdg
Failure to thrive, Atrial septal dilatation, Hepatosplenomegaly, Rhizomelia, Cerebellar vermis hy... ORPHA:263508
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Supernumerary tooth, Postaxial polydactyly, Cone-shaped epiphysis, Brachydactyly... OMIM:617088
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Preaxial polydactyly, Postaxial polydactyly OMIM:616546
Unilateral Polymicrogyria
Abnormal heart morphology, Pulmonary arteriovenous malformation, Abnormal posturing ORPHA:268943
Floating-Harbor Syndrome
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:136140
Occipital Horn Syndrome
Short clavicles, Coxa valga, Short humerus, Genu valgum, Pelvic bone exostoses, Capitate-hamate f... OMIM:304150
Yunis-Varon Syndrome
Absent thumb, Cutaneous syndactyly, Congenital hip dislocation, Down-sloping shoulders, Aplasia/H... OMIM:216340
Floating-Harbor Syndrome
Dislocated radial head, Short clavicles, Persistence of primary teeth, Avascular necrosis of the ... ORPHA:2044
Restrictive Dermopathy 1
Short clavicles, Temporomandibular joint ankylosis, Micrognathia, Osteolytic defects of the dista... OMIM:275210
Microphthalmia, Syndromic 1
Short clavicles, Prominent fingertip pads, Down-sloping shoulders, Syndactyly, Camptodactyly, Age... 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.

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

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