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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
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Punctal stenos... ORPHA:572333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Blepharophimosis, Premature ovarian insufficiency, Ptosis, Epicanthus inv... OMIM:110100
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus 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
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... 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
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... 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
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Ovarian Dysgenesis 3
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... OMIM:614324
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
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 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
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Progesterone Resistance
Female infertility OMIM:264080
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Upper eyel... OMIM:167730
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Faundes-Banka Syndrome
Downslanted palpebral fissures, Premature thelarche, Epicanthus, Hypoplasia of the lower eyelids,... OMIM:619376
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Hypoplasia of eyelid, Abdominal obesity, Micr... OMIM:619321
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Punctal stenos... ORPHA:572333
Ablepharon-Macrostomia Syndrome
Ambiguous genitalia, Cryptophthalmos, Absent eyelashes, Hypoplastic labia majora, Ablepharon, Abs... OMIM:200110
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Cryptorchidism, Orbital cyst OMIM:164180
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility ORPHA:1643
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Bartsocas-Papas Syndrome
Ambiguous genitalia, Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Popliteal pterygium, Eye... ORPHA:1234
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Blepharophimosis, Premature ovarian insufficiency, Ptosis, Epicanthus inv... OMIM:110100
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Ptosis, Hypospadias, Thick eyebrow OMIM:619736
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Barber-Say Syndrome
Aplasia/Hypoplasia of the eyebrow, Shawl scrotum, Breast aplasia, Ablepharon, Failure to thrive, ... ORPHA:1231
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Abnormal conjunctiva morphology, Epicanthus, Blepharophimosis, Limbal de... ORPHA:3339
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Bifid scrotum, Ptosis, Hypospa... ORPHA:1784
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Supernumerary nipple, Eyelid coloboma ORPHA:246
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Synophrys, Abnormality of the ovary, Obesity, Hypoplasia of t... ORPHA:247768
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow OMIM:613456
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Ptosis, Upper eyelid colobom... ORPHA:1791
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid ORPHA:398156
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:110
Acrofacial Dysostosis, Cincinnati Type
Downslanted palpebral fissures, Decreased body weight, Ablepharon, Upper eyelid coloboma, Lower e... OMIM:616462
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Ptosis, Eyelid coloboma OMIM:268850
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma ORPHA:1104
Burn-Mckeown Syndrome
Short palpebral fissure, Lower eyelid coloboma, Blepharophimosis OMIM:608572
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Eyelid coloboma, Telecanthus OMIM:607597
Jacobsen Syndrome
Epicanthus, Annular pancreas, Labial hypoplasia, Clitoral hypoplasia, Ptosis, Failure to thrive, ... OMIM:147791
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Obesity, Epicanthus OMIM:157980
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus OMIM:608996
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Ambiguous genitalia, Bicornuate uterus, Blepharophimosis, Absent eyela... OMIM:263650
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Large for gestational age, Eyelid coloboma, Abnormali... ORPHA:2563
Oculocerebrocutaneous Syndrome
Ptosis, Eyelid coloboma, Cryptorchidism ORPHA:1647
Nager Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis, Sparse lower eyelashes... ORPHA:245
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Supernumerary nipple, Eyelid coloboma, Ectropion, Cryptorchidism,... OMIM:263750
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Lower eyelid coloboma OMIM:616367
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Upper eyelid coloboma, Cryptophthalmos ORPHA:2717
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Downslanted palpebral fissures, Shawl scrotum, Bifid scrotum, Epispadias, Ptosis, Hypospadias, Ey... ORPHA:2211
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Fraser Syndrome 2
Ambiguous genitalia, Cryptophthalmos OMIM:617666
Encephalocraniocutaneous Lipomatosis
Eyelid coloboma, Limbal dermoid, Cryptorchidism OMIM:613001
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Treacher-Collins Syndrome
Downslanted palpebral fissures, Blepharospasm, Hypoplasia of the thymus, Absent eyelashes, Hypopl... ORPHA:861
Treacher Collins Syndrome 1
Downslanted palpebral fissures, Lacrimal duct stenosis, Abnormal parotid gland morphology, Ptosis... OMIM:154500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Bicornuate uterus, Labial hypoplasia, Eyelid coloboma, Telecanthus, Clitoral hypertrophy ORPHA:140952
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cryptophthalmos, Epicanthus, Long eyelashes, Hypospadias OMIM:615877
Helsmoortel-Van Der Aa Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Decreased response to growth hormone sti... OMIM:615873
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Blepharophimosis, Ankyloblepharon, Ptosis, Eyelid coloboma, Telecant... OMIM:229400
Fraser Syndrome 3
Small scrotum, Cryptophthalmos, Hypoplasia of penis, Stillbirth OMIM:617667
Proboscis Lateralis
Abnormal nasolacrimal system morphology, Abnormal location of the eyebrow, Abnormal eyebrow morph... ORPHA:141099
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology ORPHA:2095
Ablepharon Macrostomia Syndrome
Ambiguous genitalia, Cryptophthalmos, Abnormality of female external genitalia, Absent eyelashes,... ORPHA:920
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Adrenal insufficiency, Increased ci... ORPHA:91349
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Breast aplasia, Eyelid coloboma, Palpebral edema, Telecanthus ORPHA:2036
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... ORPHA:90795
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Upper eyelid coloboma OMIM:617746
Branchioskeletogenital Syndrome
Downslanted palpebral fissures, Blepharochalasis, Synophrys, Absent nipple, Absent external genit... ORPHA:1299
Jacobsen Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Epicanthus, Annular pancreas, ... ORPHA:2308
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Oculoectodermal Syndrome
Epicanthus, Pineal cyst, Limbal dermoid, Supernumerary nipple, Eyelid coloboma OMIM:600268
Fraser Syndrome 1
Cryptophthalmos, Bicornuate uterus, Absent eyelashes, Lacrimal duct aplasia, Malformed lacrimal d... OMIM:219000
Charge Syndrome
Epicanthus, Bifid scrotum, Anterior hypopituitarism, Labial hypoplasia, Ptosis, Delayed puberty, ... ORPHA:138
Neu-Laxova Syndrome 2
Ablepharon OMIM:616038
Leopard Syndrome 1
Aplasia of the ovary, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Cryptorchidism, Micr... OMIM:151100
Fraser Syndrome
Urethral atresia, Ambiguous genitalia, Cryptophthalmos, Bicornuate uterus, Lacrimal duct aplasia,... ORPHA:2052
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Epicanthus, Ptosis, Eyelid coloboma, Sparse eyelashes ORPHA:306542
Scalp-Ear-Nipple Syndrome
Epicanthus, Blepharophimosis, Narrow palpebral fissure, Breast aplasia, Palpebral edema, Lower ey... OMIM:181270
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Acrofacial Dysostosis 1, Nager Type
Downslanted palpebral fissures, Bicornuate uterus, Absent lower eyelashes, Sparse lower eyelashes... OMIM:154400
Treacher Collins Syndrome 2
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:613717
Aicardi-Goutières Syndrome
Hypothyroidism, Ptosis, Diabetes mellitus, Eyelid coloboma, Micropenis ORPHA:51
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Neu-Laxova Syndrome 1
Absent eyelashes, Pterygium, Ablepharon, Bifid uterus, Stillbirth, Cryptorchidism, Neonatal death OMIM:256520
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... OMIM:618820
Mycophenolate Mofetil Embryopathy
Eyelid coloboma ORPHA:268249
Constricting Bands, Congenital
Eyelid coloboma OMIM:217100
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... OMIM:209900
Roberts-Sc Phocomelia Syndrome
Downslanted palpebral fissures, Bicornuate uterus, Enlarged labia minora, Long penis, Hypospadias... OMIM:268300
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Turner Syndrome Due To Structural X Chromosome Anomalies
Neck pterygia, High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Epicanthus, Sec... ORPHA:99413
Turner Syndrome
Neck pterygia, High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Epicanthus, Sec... ORPHA:881
Mosaic Monosomy X
Neck pterygia, High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Epicanthus, Sec... ORPHA:99228
Monosomy X
Neck pterygia, High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Epicanthus, Sec... ORPHA:99226
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Schinzel-Giedion Syndrome
Central hypothyroidism, Hypospadias, Annular pancreas, Streak ovary, Micropenis ORPHA:798
Craniofacial Microsomia
Blepharophimosis, Ptosis, Upper eyelid coloboma, Limbal dermoid 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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