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Gene: Foxl2 MGI:1349428

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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:
forkhead box L2
Synonyms:
Pfrk

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 Foxl2 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 Foxl2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... OMIM:110100
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996

The table below shows human diseases predicted to be associated to Foxl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Invasive Mole
Menometrorrhagia ORPHA:99925
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Faundes-Banka Syndrome
Epicanthus, Premature thelarche, Cryptorchidism, Hypoplasia of the lower eyelids, Delayed puberty... OMIM:619376
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicula... OMIM:619321
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Hypoplastic labia majora, Hyp... OMIM:200110
Oculocerebrocutaneous Syndrome
Cryptorchidism, Eyelid coloboma, Orbital cyst OMIM:164180
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Bartsocas-Papas Syndrome
Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Hypoplastic ma... ORPHA:1234
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... OMIM:110100
Teebi Hypertelorism Syndrome 2
Hypospadias, Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Barber-Say Syndrome
Ablepharon, Telecanthus, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl s... ORPHA:1231
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Blepharophimosis, Epispadias, Ey... ORPHA:3339
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia o... ORPHA:1784
Postaxial Acrofacial Dysostosis
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures, Supernumerary nipple ORPHA:246
Müllerian Aplasia And Hyperandrogenism
Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone le... ORPHA:247768
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma OMIM:613456
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... ORPHA:1791
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Vaginal atresia, Nasolacrimal duct obstruction, Cryptophthalmos OMIM:248450
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Upper eyelid coloboma ORPHA:398156
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Lower eyelid coloboma, Upper eyelid coloboma, Decreased body weight, Downslanted palp... OMIM:616462
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Richieri-Costa/Guion-Almeida Syndrome
Eyelid coloboma, Downslanted palpebral fissures, Ptosis OMIM:268850
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Burn-Mckeown Syndrome
Blepharophimosis, Lower eyelid coloboma, Short palpebral fissure OMIM:608572
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma ORPHA:1104
Jacobsen Syndrome
Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Nasolacrimal d... OMIM:147791
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Ambiguous genitalia, Cicatricial lagophthalmos, Bilateral cryptorchid... OMIM:263650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Eyelid coloboma, Telecanthus OMIM:607597
Momo Syndrome
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Obesity OMIM:157980
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Momo Syndrome
Epicanthus, Large for gestational age, Abnormality of the thyroid gland, Obesity, Eyelid coloboma... ORPHA:2563
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Oculocerebrocutaneous Syndrome
Cryptorchidism, Eyelid coloboma, Ptosis ORPHA:1647
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Eyelid coloboma, Micropenis, Downslanted palpebral fissures... OMIM:263750
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Lower eyelid coloboma OMIM:616367
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Eyelid coloboma, Shawl scrotum... ORPHA:2211
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Blepharospasm, Eyelid colob... ORPHA:861
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Cryptorchidism, Eyelid coloboma OMIM:613001
Diamond-Blackfan Anemia 11
Eyelid coloboma OMIM:614900
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Eyelid coloboma, Bicornuate uterus, Labial hypoplasia, Clitoral hypertrophy ORPHA:140952
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Hypospadias, Precocious puberty, Long eyelashes, Cryptophthalmos OMIM:615877
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Upper eyelid coloboma, Lower eyel... OMIM:154500
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Decreased response to growth hormone stimulation test, Cryptorchidism, Bilateral ptos... OMIM:615873
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Fraser Syndrome 3
Hypoplasia of penis, Stillbirth, Small scrotum, Cryptophthalmos OMIM:617667
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of penis, Absent eyelashes, Breast hypoplasia, Ambiguous g... ORPHA:920
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... ORPHA:141099
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology ORPHA:2095
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Scalp-Ear-Nipple Syndrome
Telecanthus, Palpebral edema, Eyelid coloboma, Breast aplasia, Type I diabetes mellitus ORPHA:2036
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Premature thelarc... ORPHA:90795
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Upper eyelid coloboma OMIM:617746
Branchioskeletogenital Syndrome
Telecanthus, Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Blepharo... ORPHA:1299
Fraser Syndrome 1
Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Upper eyelid coloboma, Lacrimal du... OMIM:219000
Jacobsen Syndrome
Epicanthus, Ectropion, Cryptorchidism, Eyelid coloboma, Annular pancreas, Downslanted palpebral f... ORPHA:2308
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Oculoectodermal Syndrome
Epicanthus, Supernumerary nipple, Pineal cyst, Eyelid coloboma, Limbal dermoid OMIM:600268
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Charge Syndrome
Bifid scrotum, Epicanthus, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, ... ORPHA:138
Neu-Laxova Syndrome 2
Ablepharon OMIM:616038
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... OMIM:151100
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Breast... OMIM:181270
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis ORPHA:306542
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus, Cryptophthalmos OMIM:617666
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Lacrimal duct aplasia, Malformed... ORPHA:2052
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Lower eyelid coloboma, Absent lower eyelashes, Bicornuate uterus, Downsla... OMIM:154400
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Neu-Laxova Syndrome 1
Ablepharon, Bifid uterus, Absent eyelashes, Cryptorchidism, Stillbirth, Neonatal death, Pterygium OMIM:256520
Treacher Collins Syndrome 2
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:613717
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Aicardi-Goutières Syndrome
Diabetes mellitus, Eyelid coloboma, Micropenis, Hypothyroidism, Ptosis ORPHA:51
Mycophenolate Mofetil Embryopathy
Eyelid coloboma ORPHA:268249
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chordee, Urogeni... OMIM:618820
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Constricting Bands, Congenital
Eyelid coloboma OMIM:217100
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Abnormality of the ovary, Truncal obe... OMIM:209900
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Eyelid coloboma, Stillbirth, Bico... OMIM:268300
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... ORPHA:99413
Turner Syndrome
Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... ORPHA:881
Mosaic Monosomy X
Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... ORPHA:99228
Monosomy X
Epicanthus, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hi... ORPHA:99226
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Annular pancreas, Central hypothyroidism, Micropenis ORPHA:798
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Craniofacial Microsomia 1
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis OMIM:164210

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 Foxl2

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 Foxl2.

No publications found that use IMPC mice or data for Foxl2.

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MGI Allele Allele Type Produced
Foxl2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Foxl2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Foxl2tm394442(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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