Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

forkhead box A3
Tcf-3g,  Hnf3g,  Hnf-3g,  Tcf3g

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Foxa3 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 Foxa3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Lipodys... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Lipodys... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Lipodystrophy, Insulin-resistant diabetes mellitus, Polyc... ORPHA:435651
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Insulin resistance, Oligospermia, Hypertriglyceri... OMIM:615703
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis, ... OMIM:614962
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Lipodystrophy, Primary amenorrhea, Hypert... OMIM:612526
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Bilateral cryptorchidism, Failure to thri... OMIM:618156
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Decreased HDL cho... ORPHA:280365
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Insulin resistance, Adipose t... ORPHA:528
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutaneous fat tissue distribution, Fl... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal ... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal ... OMIM:608594
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Azoospermia, Glucose intolerance, Amenorrhea, Incre... OMIM:235200
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, A... OMIM:151660
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Potocki-Lupski Syndrome
Hypothyroidism, Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Testicular atrophy, Decreased fertility OMIM:313200
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreased LDL cholesterol conce... ORPHA:96180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Micropenis, Hypocholesterolemia OMIM:618810
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Abnormality of iron homeostasis, Ameno... ORPHA:465508
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:266510
Atypical Werner Syndrome
Ovarian neoplasm, Decreased fertility, Delayed puberty, Secondary amenorrhea, Type II diabetes me... ORPHA:79474
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Chylomicron Retention Disease
Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Inguina... OMIM:305400
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Patent ductus arteriosus,... OMIM:270400
Kaufman Oculocerebrofacial Syndrome
Hypoplastic labia majora, Clitoral hypertrophy, Failure to thrive, Hypocholesterolemia OMIM:244450
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Hypotriglyceridemia, Hypothyroidism, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decrea... ORPHA:14
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Mccune-Albright Syndrome
Hypophosphatemia, Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, E... ORPHA:562
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Glucose intolerance, Elevated alpha-fetoprotein, Female hypogonadism, Hypoplasia of the thymus, D... OMIM:208900
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Hypoplastic male external genitalia, Insulin resistance, Pubertal develop... ORPHA:740
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Rett Syndrome
Increased serum pyruvate, Increased serum leptin, Hyperammonemia, Failure to thrive ORPHA:778
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Inguinal hernia, Hypos... ORPHA:227
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy, Hypospadias ORPHA:3063
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic ... ORPHA:273
Lesch-Nyhan Syndrome
Hyperuricosuria, Testicular atrophy, Hyperuricemia OMIM:300322
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, D... ORPHA:64


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 Foxa3

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 Foxa3.

No publications found that use IMPC mice or data for Foxa3.

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MGI Allele Allele Type Produced
Foxa3tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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