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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
Mania, Depression OMIM:125480
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
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
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Gordon Holmes Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea OMIM:212840
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... OMIM:229070
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Premature Ovarian Failure 15
Elevated circulating follicle stimulating hormone level, Irregular menstruation, Oligomenorrhea, ... OMIM:618096
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Premature ovarian insufficiency, Endometriosis OMIM:613680
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:79085
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618187
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Prune Belly Syndrome
Cryptorchidism, Patent ductus arteriosus, Decreased fertility, Abnormality of the uterus, Decreas... ORPHA:2970
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:435651
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Oligomenorrhea, Polycystic ovaries ORPHA:435660
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Decreased respon... ORPHA:3464
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Elevate... ORPHA:2965
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Patent ductus arteriosus, Micropenis ORPHA:363444
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Patent ductus arteriosus, Bicornuate uterus OMIM:601186
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Abnormality of the uter... ORPHA:3138
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Bicornuat... ORPHA:2745
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Meacham Syndrome
Septate vagina, Patent ductus arteriosus, Male pseudohermaphroditism, Blind vagina, Bicornuate ut... OMIM:608978
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Abnormality of the uterus, Abnorma... ORPHA:99776
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... ORPHA:93111
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Patent ductus arteriosus, Azoospermia... ORPHA:84
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypoplasia of the uteru... OMIM:618419
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple OMIM:200980
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Microsporidiosis
Abnormality of the parathyroid gland, Prostatitis, Abnormal endometrium morphology, Abnormal fall... ORPHA:2552
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... OMIM:229850
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Loeys-Dietz Syndrome
Patent ductus arteriosus, Uterine rupture ORPHA:60030
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Pa... OMIM:270400
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Neu-Laxova Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Bifid uterus OMIM:256520
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... OMIM:181450
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Bicornuate uterus OMIM:154400
Norrie Disease
Cryptorchidism, Erectile dysfunction, Uterine rupture ORPHA:649
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Patent ductus arteriosus, Bicornuate uterus, Abnormal salivary gland morphology, ... ORPHA:2363
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Aplasia of th... OMIM:618280
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia ORPHA:93271
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... ORPHA:201
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Patent ductus arteriosus, Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99226
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Patent ductus arteriosus, Ambiguous genitalia, femal... OMIM:249000
Okamoto Syndrome
Bifid uterus ORPHA:2729
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the uterus, Clitoral hypopla... ORPHA:709
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Patent ductus arteri... OMIM:261540
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Patent ductus arteriosus, Long penis, Bicornu... OMIM:268300
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, A... ORPHA:199
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Patent du... ORPHA:857
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Uni... OMIM:619503
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Abnormality of the anterior pituita... ORPHA:438213
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Patent ductus arteriosus ORPHA:284984
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Loeys-Dietz Syndrome 3
Uterine prolapse, Patent ductus arteriosus, Cystocele 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.

No publications found that use IMPC mice or data for Eef2k.

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

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