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

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 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
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
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Invasive Mole
Menometrorrhagia ORPHA:99925
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
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
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Faundes-Banka Syndrome
Failure to thrive, Downslanted palpebral fissures, Cryptorchidism, Hypoplasia of the lower eyelid... OMIM:619376
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of eyelid, Hypoplasia of the ovary, Abdominal obesity, Micr... OMIM:619321
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Ablepharon-Macrostomia Syndrome
Cryptophthalmos, Hypoplasia of eyelid, Absent eyelashes, Hypoplastic labia majora, Ambiguous geni... OMIM:200110
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lacrimal gland hy... ORPHA:572333
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital cyst, Eyelid coloboma OMIM:164180
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Treacher Collins Syndrome 4
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:618939
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Eyelid coloboma, Ambiguous geni... ORPHA:1234
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Teebi Hypertelorism Syndrome 2
Ptosis, Upper eyelid coloboma, Thick eyebrow, Hypospadias OMIM:619736
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Female infertility, Telecanthus, Amenorrhea, Ptosi... OMIM:110100
Barber-Say Syndrome
Failure to thrive, Ectropion, Breast aplasia, Telecanthus, Sparse or absent eyelashes, Hypoplasti... ORPHA:1231
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Acrofrontofacionasal Dysostosis
Bifid scrotum, Downslanted palpebral fissures, Eyelid coloboma, Ptosis, Aplasia/Hypoplasia of the... ORPHA:1784
Manitoba Oculotrichoanal Syndrome
Cryptophthalmos, Eyelid coloboma, Nasolacrimal duct obstruction, Vaginal atresia, Corneopalpebral... OMIM:248450
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Short palpebral fissure, Failure to thrive, Telecanthus, Limbal dermoi... ORPHA:3339
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Eyelid coloboma, Ectropion of lower eyelids, Supernumerary nipple ORPHA:246
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Thick eyebrow, Increased serum tes... ORPHA:247768
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes OMIM:613456
Frontofacionasal Dysplasia
Telecanthus, Absent inner eyelashes, Upper eyelid coloboma, Ptosis, Blepharophimosis, Aplasia/Hyp... ORPHA:1791
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Treacher Collins Syndrome 3
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:248390
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid ORPHA:398156
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Richieri-Costa/Guion-Almeida Syndrome
Ptosis, Eyelid coloboma, Downslanted palpebral fissures OMIM:268850
Burn-Mckeown Syndrome
Short palpebral fissure, Lower eyelid coloboma, Blepharophimosis OMIM:608572
Anophthalmia Plus Syndrome
Eyelid coloboma, Blepharophimosis ORPHA:1104
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Telecanthus, Cryptorchidism, Eyelid coloboma, Epicanthus, Pt... OMIM:147791
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Eyelid coloboma OMIM:607597
Bartsocas-Papas Syndrome 1
Axillary pterygium, Absent external genitalia, Popliteal pterygium, Ankyloblepharon, Bilateral cr... OMIM:263650
Momo Syndrome
Epicanthus, Obesity, Eyelid coloboma, Downslanted palpebral fissures OMIM:157980
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Nager Syndrome
Downslanted palpebral fissures, Lower eyelid coloboma, Ptosis, Aplasia/Hypoplasia of the eyebrow,... ORPHA:245
Oculocerebrocutaneous Syndrome
Ptosis, Cryptorchidism, Eyelid coloboma ORPHA:1647
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Momo Syndrome
Downslanted palpebral fissures, Obesity, Large for gestational age, Eyelid coloboma, Epicanthus ORPHA:2563
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Supernumerary nipple, Ectropion, Eyelid coloboma, Cryptorchidism,... OMIM:263750
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Sparse eyelashes OMIM:616367
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Downslanted palpebral fissures, Eyelid coloboma, Ptosis... ORPHA:2211
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Cryptorchidism, Eyelid coloboma OMIM:613001
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Telecanthus, Eyelid coloboma, Labial hypoplasia, Bicornuate uterus ORPHA:140952
Treacher-Collins Syndrome
Blepharospasm, Small scrotum, Failure to thrive, Downslanted palpebral fissures, Cryptorchidism, ... ORPHA:861
Diamond-Blackfan Anemia 11
Eyelid coloboma OMIM:614900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cryptophthalmos, Long eyelashes, Epicanthus, Hypospadias OMIM:615877
Treacher Collins Syndrome 1
Downslanted palpebral fissures, Lower eyelid coloboma, Cryptorchidism, Abnormal parotid gland mor... OMIM:154500
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Downslanted palpebral fissures, Abnormal female external ge... OMIM:277000
Helsmoortel-Van Der Aa Syndrome
Short palpebral fissure, Failure to thrive, Downslanted palpebral fissures, Decreased response to... OMIM:615873
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Frontofacionasal Dysplasia
Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Ptosis, Blepharophimosis, ... OMIM:229400
Fraser Syndrome 3
Small scrotum, Hypoplasia of penis, Cryptophthalmos, Stillbirth OMIM:617667
Ablepharon Macrostomia Syndrome
Abnormal female external genitalia morphology, Breast hypoplasia, Cryptophthalmos, Absent eyelash... ORPHA:920
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Unilateral narrow palp... ORPHA:141099
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology ORPHA:2095
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Breast aplasia, Telecanthus, Eyelid coloboma, Palpebral edema ORPHA:2036
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Sweeney-Cox Syndrome
Upper eyelid coloboma, Bilateral cryptorchidism OMIM:617746
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Branchioskeletogenital Syndrome
Highly arched eyebrow, Absent external genitalia, Absent nipple, Downslanted palpebral fissures, ... ORPHA:1299
Jacobsen Syndrome
Annular pancreas, Downslanted palpebral fissures, Eyelid coloboma, Cryptorchidism, Epicanthus, Pt... ORPHA:2308
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Fraser Syndrome 1
Clitoral hypertrophy, Lacrimal duct aplasia, Cryptophthalmos, Cryptorchidism, Absent eyelashes, U... OMIM:219000
Oculoectodermal Syndrome
Supernumerary nipple, Eyelid coloboma, Epicanthus, Pineal cyst, Limbal dermoid OMIM:600268
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Neu-Laxova Syndrome 2
Ablepharon OMIM:616038
Charge Syndrome
Highly arched eyebrow, Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorch... ORPHA:138
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Bilateral cryptorchidism, Downslanted palpebral fissures, Pterygium, Lower eye... OMIM:616462
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Scalp-Ear-Nipple Syndrome
Breast aplasia, Telecanthus, Lower eyelid coloboma, Epicanthus, Blepharophimosis, Narrow palpebra... OMIM:181270
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Eyelid coloboma, Sparse eyelashes, Epicanthus, Ptosis ORPHA:306542
Fraser Syndrome 2
Hypoplasia of the thymus, Ambiguous genitalia, Cryptophthalmos OMIM:617666
Acrofacial Dysostosis 1, Nager Type
Downslanted palpebral fissures, Lower eyelid coloboma, Bicornuate uterus, Sparse lower eyelashes,... OMIM:154400
Familial Adenomatous Polyposis 4
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Treacher Collins Syndrome 2
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:613717
Neu-Laxova Syndrome 1
Pterygium, Cryptorchidism, Neonatal death, Absent eyelashes, Ablepharon, Stillbirth, Bifid uterus OMIM:256520
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Aicardi-Goutières Syndrome
Eyelid coloboma, Ptosis, Hypothyroidism, Micropenis, Diabetes mellitus ORPHA:51
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Fraser Syndrome
Small scrotum, Lacrimal duct aplasia, Abnormal vagina morphology, Cryptophthalmos, Malformed lacr... ORPHA:2052
Mycophenolate Mofetil Embryopathy
Eyelid coloboma ORPHA:268249
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Constricting Bands, Congenital
Eyelid coloboma OMIM:217100
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Obesity, Abnormality of the ovary, Micropenis, Nephrogen... OMIM:209900
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Downslanted palpebral fissures, Enlarged labia minora, Cryptorc... OMIM:268300
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Neck pterygia, Failure to thrive in infancy, Abnormality of the ovary, Obesit... ORPHA:99413
Turner Syndrome
Female infertility, Neck pterygia, Failure to thrive in infancy, Abnormality of the ovary, Obesit... ORPHA:881
Mosaic Monosomy X
Female infertility, Neck pterygia, Failure to thrive in infancy, Abnormality of the ovary, Obesit... ORPHA:99228
Monosomy X
Female infertility, Neck pterygia, Failure to thrive in infancy, Abnormality of the ovary, Obesit... ORPHA:99226
Alg9-Cdg
Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Streak ovary, Micropenis, Hypospadias ORPHA:798
Craniofacial Microsomia 1
Upper eyelid coloboma, Ptosis, Limbal dermoid, Blepharophimosis 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.

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
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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