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Gene: Eef2k MGI:1195261

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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:
eukaryotic elongation factor-2 kinase
Synonyms:
eEF-2K

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 Eef2k 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 Eef2k by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Perrault Syndrome 4
Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating gonadotropin l... OMIM:615300
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Abnormal internal genitalia, Ap... OMIM:273250
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Secondary amenorrhea, Primary amenorrhea OMIM:212840
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... ORPHA:65681
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea OMIM:615363
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Ovarian Dysgenesis 10
Elevated circulating luteinizing hormone level, Streak ovary, Hypoplasia of the ovary, Elevated c... OMIM:619834
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:615723
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614858
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Breast hy... ORPHA:432
Premature Ovarian Failure 21
Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone le... OMIM:620311
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Decreased fertility, Primary ... ORPHA:243
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... ORPHA:52901
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Pituitary hypothyroidism, Abnormality of the menstrual cycle... ORPHA:91348
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrhea, Increased circulating gonadot... ORPHA:785
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis, Primary amenorrhea OMIM:136680
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Hypoplasia of the ovary, Cryptorchidism, Primary amenorrhea OMIM:618841
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Decreased fertility, C... ORPHA:90796
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimu... OMIM:618096
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Hypospadias, Clitor... OMIM:164745
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Patent ductus arteriosus, Endometriosis OMIM:613680
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:79085
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Frasier Syndrome
Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysgenesis with fema... ORPHA:347
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... ORPHA:90793
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Prune Belly Syndrome
Abnormality of the uterus, Decreased testicular size, Decreased fertility, Cryptorchidism, Urogen... ORPHA:2970
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618187
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:435651
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea ORPHA:2975
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Oligomenorrhea, Abnormal labia majora morphology ORPHA:435660
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum OMIM:140000
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... ORPHA:3464
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Non-Functioning Pituitary Adenoma
Hypopituitarism, Decreased fertility in females, Female hypogonadism, Decreased fertility in male... ORPHA:91349
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Endometriosis, Micropenis, Premature ovarian insufficiency, Hypospadias, Patent ductus arteriosus ORPHA:363444
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ehlers-Danlos Syndrome, Classic-Like, 1
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Prolactinoma
Irregular menstruation, Secondary growth hormone deficiency, Male hypogonadism, Abnormality of th... ORPHA:2965
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Bifid scrotum, Cys... ORPHA:322
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism, Hypoplastic nippl... ORPHA:3138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas deferens, Epididymal cyst, Reduced sperm m... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Vaginal atresia, Micropenis OMIM:209900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Abnormality of the menstrual cyc... ORPHA:90794
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism, Patent ductus arteriosus OMIM:601186
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Pseudotrisomy 13 Syndrome
Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Bicornuate uterus, Blind va... OMIM:608978
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus OMIM:300707
Opitz Gbbb Syndrome
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias, P... ORPHA:2745
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Patent ductus arteriosus, A... ORPHA:84
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Elevated circulating lu... ORPHA:95699
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Cryptorchidism, Micropenis, Abnormal fall... ORPHA:1655
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis,... ORPHA:93111
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... OMIM:618419
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Currarino Syndrome
Septate vagina, Rectovaginal fistula, Bicornuate uterus OMIM:176450
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple OMIM:200980
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Alg9-Cdg
Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Microsporidiosis
Abnormal endometrium morphology, Prostatitis, Abnormal fallopian tube morphology, Abnormality of ... ORPHA:2552
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis OMIM:614075
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Absent gallbladder, Uterus didelphys OMIM:617925
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Splenopancreatic fusion, Hypoplastic labia majora, Hypoplastic nipple... OMIM:269150
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... OMIM:263650
Loeys-Dietz Syndrome
Patent ductus arteriosus, Uterine rupture ORPHA:60030
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Fryns Syndrome
Ectopic pancreatic tissue, Bifid scrotum, Cryptorchidism, Shawl scrotum, Bicornuate uterus, Hypos... OMIM:229850
Norrie Disease
Erectile dysfunction, Uterine rupture, Cryptorchidism ORPHA:649
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Patent ductus arteriosus OMIM:154400
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Ambiguous genit... OMIM:270400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Hydrolethalus Syndrome 1
Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology OMIM:236680
Neu-Laxova Syndrome 1
Bifid uterus, Patent ductus arteriosus, Cryptorchidism OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Fraser Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias OMIM:219000
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... ORPHA:2052
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu... ORPHA:99226
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Cowden Syndrome
Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol... ORPHA:201
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias, Patent ductus arteriosus, Annular pancreas OMIM:265380
Okamoto Syndrome
Bifid uterus ORPHA:2729
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Lacrimal gland aplasia, Abnormal salivary gland morphology, Patent ductus arterio... ORPHA:2363
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Cornelia De Lange Syndrome
Abnormality of the uterus, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Primary... ORPHA:199
Peters Plus Syndrome
Anterior hypopituitarism, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Patent ductus ar... ORPHA:709
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Uterus didelphys, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Meckel Syndrome, Type 1
Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi... OMIM:249000
Peters-Plus Syndrome
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Hypopla... OMIM:261540
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Decreased response to growth hormone stimulation test, Cryptorchidism, Mic... OMIM:619503
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Bicornuate uterus, Hypos... OMIM:268300
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Rectoperine... ORPHA:857
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias ORPHA:286
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap... ORPHA:438213
Aneurysm-Osteoarthritis Syndrome
Patent ductus arteriosus, Uterine prolapse ORPHA:284984
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse ORPHA:287
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Loeys-Dietz Syndrome 3
Cystocele, Patent ductus arteriosus, Uterine prolapse OMIM:613795

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 Eef2k

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 Eef2k.

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

Title Journal IMPC Allele PubMed ID
FAM86A methylation of eEF2 links mRNA translation elongation to tumorigenesis. Molecular cell (March 2024) Eef2kmttm1e(EUCOMM)Wtsi 38508183

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Eef2ktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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