Gene Summary

Name:
TATA box binding protein like 2
Synonyms:
Trf3,  LOC227606

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.

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Viewing: all phenotypes

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 Tbpl2 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 Tbpl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... ORPHA:280356
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus ORPHA:79084
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic ... OMIM:268020
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... ORPHA:243
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:79085
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency OMIM:619518
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435651
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Preeclampsia
Polycystic ovaries, Type I diabetes mellitus ORPHA:275555
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435660
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Ataxia-Telangiectasia
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Diabetes mellitus, Apl... ORPHA:100
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Congenital Generalized Lipodystrophy
Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clitoral hypertrop... ORPHA:528
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resistant diabetes... ORPHA:79083
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dysplasia, Cryptorchidism, Hypoplasia o... ORPHA:110
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Polycystic ovaries, Dysmenorrhea, Diabetes mellitus ORPHA:2348
Primary Lipodystrophy
Polycystic ovaries, Type II diabetes mellitus, Menometrorrhagia ORPHA:90970
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency ORPHA:2928
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Donohue Syndrome
Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Precocious puberty, Hyperins... OMIM:246200
Senior-Loken Syndrome
Premature ovarian insufficiency ORPHA:3156
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Decreased circulating ... OMIM:603896
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Alpha-Heavy Chain Disease
Premature ovarian insufficiency ORPHA:100025
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Cowden Syndrome 6
Goiter, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, ... OMIM:615109
Cowden Syndrome 5
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... OMIM:615108
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Cowden Syndrome 1
Goiter, Thyroid adenoma, Varicocele, Hyperthyroidism, Ovarian carcinoma, Thyroiditis, Hypothyroid... OMIM:158350
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Irregular menstruation, Delayed puberty ORPHA:370
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, Uterine neoplasm, Ovarian cyst OMIM:175200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Oligomenorrhea ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Irregular menstruation, Delayed puberty ORPHA:264580
Cystic Echinococcosis
Abnormality of the testis size, Hepatic cysts, Renal cyst, Ovarian cyst ORPHA:400
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland ORPHA:2969
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertrophy, Clitoral ... OMIM:269700
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Diabetes mellitus, Decreased serum leptin... ORPHA:280365
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Polycystic ovaries, Aplasia/Hypoplasia of the thymus ORPHA:2176
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus ORPHA:371428
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertrophy, Clitoral ... OMIM:608594
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:230400
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyperinsulinemia ORPHA:79086
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortiso... ORPHA:249
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Labial pseudohypertrophy OMIM:151660
Peutz-Jeghers Syndrome
Multiple renal cysts, Pancreatic adenocarcinoma, Cervix cancer, Enlarged polycystic ovaries ORPHA:2869
Leopard Syndrome 1
Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m... OMIM:151100
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Renal cyst, ... OMIM:614527
Orofaciodigital Syndrome I
Pancreatic cysts, Myelomeningocele, Hepatic cysts, Polycystic kidney dysplasia, Ovarian cyst OMIM:311200
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Spontaneous abortion, Bilateral cryptorchidism, Premature ovarian insuffici... ORPHA:96179
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Hypoparathyroidism, Adrenal insufficiency, Cholelithiasi... OMIM:240300
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... OMIM:201750
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Menorrhagia, Polycystic ovaries, Thyroiditis, Hypothyroidism, Irregular menstruation, Delayed pub... ORPHA:79259
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... OMIM:209900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary OMIM:619321
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Alg9-Cdg
Bicornuate uterus, Hepatic cysts, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... ORPHA:769
Ataxia-Telangiectasia
Hypoplasia of the thymus, Abnormal spermatogenesis, Diabetes mellitus, Female hypogonadism, Delay... OMIM:208900
Cowden Syndrome
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the thyro... ORPHA:201
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99226
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Pr... ORPHA:69085
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Patent ductus arteriosus, Bicornuate uterus, Thyrog... ORPHA:2745
Leprechaunism
Central hypothyroidism, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, O... ORPHA:508
Schinzel-Giedion Syndrome
Hypospadias, Central hypothyroidism, Streak ovary, Annular pancreas, Renal cyst, Micropenis ORPHA:798
Williams Syndrome
Type II diabetes mellitus, Urethral stenosis, Functional abnormality of male internal genitalia, ... ORPHA:904
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Irregular menstruatio... ORPHA:64
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Long penis, Neoplasm of... ORPHA:744

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 Tbpl2

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 Tbpl2.

No publications found that use IMPC mice or data for Tbpl2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tbpl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbpl2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tbpl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tbpl2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbpl2tm34139(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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