Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
polo like kinase 4
Synonyms:
Stk18,  Sak

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 Plk4 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.

The table below shows human diseases associated to Plk4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation OMIM:616171
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation ORPHA:2518
Seckel Syndrome
Intrauterine growth retardation ORPHA:808

The table below shows human diseases predicted to be associated to Plk4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... OMIM:618723
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ovarian Dysgenesis 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... OMIM:618187
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... OMIM:300068
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... ORPHA:3044
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Absence of secondary sex characteristics, Increased circulating gonadotropin level, ... ORPHA:163971
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testosterone level,... ORPHA:99429
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Ambiguous geni... ORPHA:261534
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Microcephaly OMIM:618165
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Central Precocious Puberty
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... ORPHA:759
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... OMIM:102200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Aplasia/hypoplasia of the uterus, Streak ovary, Decreased serum estradiol, ... ORPHA:243
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:95619
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Perrault Syndrome 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233400
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
47,Xyy Syndrome
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... ORPHA:8
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... OMIM:618419
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Elevated circulating follicle stimu... ORPHA:572333
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Impotence, Adrenocorticotropic hormone deficiency, Cent... ORPHA:91354
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... ORPHA:2232
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... ORPHA:99725
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cerebral calcification OMIM:613987
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Acute pancreatitis, Diabetes mellitus, E... OMIM:617253
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Pituitary Apoplexy
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, In... ORPHA:95613
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Gangliocytoma
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... ORPHA:251937
Myotonic Dystrophy 1
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Panhypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... ORPHA:95513
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Adenohypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... ORPHA:95512
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Adenoma sebaceum, Increased circulating cortisol level, Insulinoma, Thyro... OMIM:131100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Pituitary adenoma, Hyperhidrosis, Hypopituitarism, ... OMIM:300942
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Ppoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Cholelith... ORPHA:97278
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:90695
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Increased circulating prolactin concentration... ORPHA:562
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Neoplasm of the thymus, Increased circulating cortisol ... ORPHA:97261
Vipoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Increased... ORPHA:97282
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Cerebral atrophy OMIM:222300
Somatostatinoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Medullary... ORPHA:97283
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Glucagonoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Increased... ORPHA:97280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Amenorrhea, Septo-optic dyspl... ORPHA:95494
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Microcephaly, Increased circulating gonadotropin level OMIM:301030
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol level, Abnormali... ORPHA:249
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Pulmonary carcinoid tumor, Eleva... ORPHA:97287
Somatomammotropinoma
Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, P... ORPHA:314769
Acromegaly
Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, A... ORPHA:963
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Megalencephaly, Cerebral edema,... ORPHA:3063
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99226
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Hydrocephalus, Patent ductus arteriosus OMIM:227646
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Intrauterine growth retardation OMIM:227645
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Duodenal Neuroendocrine Tumor
Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, Elevated circulating growth hormone... ORPHA:100076
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Pmm2-Cdg
Hypogonadotropic hypogonadism, Aplasia of the ovary, Elevated circulating thyroid-stimulating hor... ORPHA:79318
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation OMIM:616171
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation ORPHA:2518
Seckel Syndrome
Intrauterine growth retardation ORPHA:808

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 Plk4

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 Plk4.

No publications found that use IMPC mice or data for Plk4.

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MGI Allele Allele Type Produced
Plk4tm119142(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plk4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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