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Gene: Polr3h MGI:1926179

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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:
polymerase (RNA) III (DNA directed) polypeptide H
Synonyms:
5031409G22Rik,  RPC8

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 Polr3h 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 Polr3h by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243

The table below shows human diseases predicted to be associated to Polr3h by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Cortisone Reductase Deficiency 2
Premature pubarche OMIM:614662
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:176400
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Temple Syndrome
Precocious puberty, Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:254516
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Dystonia 28
Precocious puberty ORPHA:589618
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism ORPHA:280195
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism OMIM:614736
Ollier Disease
Precocious puberty ORPHA:296
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty ORPHA:254531
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Pituitary prolactin cell adenoma, ... ORPHA:99725
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:398079
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Long penis, Clitoral hypertrophy OMIM:262190
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous ... ORPHA:786
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Temple Syndrome
Precocious puberty, Cryptorchidism, Decreased testicular size OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Neoplasm of the scr... ORPHA:370348
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Pitui... OMIM:174800
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism ORPHA:96184
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:98754
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:98793
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:177904
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:177901
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... OMIM:176270
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypospadias ORPHA:254346
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neopl... ORPHA:361
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma ORPHA:2874
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
Slc35A2-Cdg
Precocious puberty ORPHA:356961
Carpenter Syndrome 1
Precocious puberty, Cryptorchidism, External genital hypoplasia OMIM:201000
Smith-Magenis Syndrome
Precocious puberty ORPHA:819
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty ORPHA:261652
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy ORPHA:769
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormality of female external genitalia ORPHA:2637
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Cryptorchidism, Labial hypertrophy ORPHA:96191
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:615485
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Cryptorchidism, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:96182
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... OMIM:146510
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Hypospadias OMIM:210720
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum OMIM:191100
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty OMIM:619269
Tay-Sachs Disease
Precocious puberty ORPHA:845
Kabuki Syndrome
Precocious puberty, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:2322
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypoparathyroidism ORPHA:369837
Alexander Disease
Precocious puberty ORPHA:58
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum OMIM:613254
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis OMIM:301066
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... OMIM:270400
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Pallister-Hall Syndrome
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... ORPHA:672
Aicardi Syndrome
Precocious puberty ORPHA:50
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363958
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Aicardi Syndrome
Precocious puberty OMIM:304050
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Pheochromocytoma ORPHA:636
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Uterine prolapse, Incr... ORPHA:438213
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... ORPHA:904
Sponastrime Dysplasia
Precocious puberty, Hypospadias ORPHA:93357
17Q11 Microdeletion Syndrome
Precocious puberty, Pheochromocytoma ORPHA:97685

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 Polr3h

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 Polr3h.

No publications found that use IMPC mice or data for Polr3h.

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MGI Allele Allele Type Produced
Polr3htm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Polr3htm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Polr3htm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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