Gene: Kdm3b MGI:1923356

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Gene Summary

Name:
KDM3B lysine (K)-specific demethylase 3B
Synonyms:
5830462I21Rik,  JHDM2B,  Jmjd1b

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Kdm3bem1(IMPC)Tcp HOM   Early adult 0.00
decreased body length Kdm3bem1(IMPC)Tcp HET Early adult 3.30×10-06
decreased exploration in new environment Kdm3bem1(IMPC)Tcp HET Early adult 3.50×10-05

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

96 Images

Eye Morphology

Images Slit Lamp

27 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Kdm3b 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 Kdm3b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diets-Jongmans Syndrome
Cryptorchidism, Umbilical hernia, Short stature, Hypospadias, Attention deficit hyperactivity dis... OMIM:618846

The table below shows human diseases predicted to be associated to Kdm3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Ataxia, Oligomenorrhea OMIM:212840
Invasive Mole
Menometrorrhagia ORPHA:99925
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Primary amenorrhea OMIM:616185
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Postnatal growth retardation, Short stature, Hypogonadism OMIM:616113
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Cortisone Reductase Deficiency 1
Obesity, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis, ... OMIM:614962
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Oligosp... ORPHA:52901
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Growth delay, Primary amenorrh... ORPHA:91
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Polycystic Ovary Syndrome 1
Obesity, Amenorrhea, Enlarged polycystic ovaries, Oligomenorrhea OMIM:184700
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Growth delay, Pitu... ORPHA:95619
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Hemochromatosis, Type 2A
Infertility, Lethargy, Azoospermia, Amenorrhea, Hypogonadotropic hypogonadism OMIM:602390
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Short stature, Primary amenorrhea OMIM:617690
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Lipodystrophy, Familial Partial, Type 4
Diabetes mellitus, Oligomenorrhea OMIM:613877
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea, Decreased ser... ORPHA:79239
Perrault Syndrome 4
Gait ataxia, Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, ... OMIM:615300
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Galactosemia
Cryptorchidism, Dystonia, Lethargy, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Hypothyroidism, Postnata... ORPHA:397590
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Primary amenorrhea, Ectopic posterior pituita... ORPHA:95496
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Metrorrhagia, Weight loss ORPHA:168816
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Postnatal growth retardation, Severe intrauterine growth retardation, Truncal obes... ORPHA:73272
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Ele... OMIM:618187
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Absence of secondary sex characteristics, Primary amenorrhea, Delayed p... ORPHA:2235
Gestational Choriocarcinoma
Spontaneous abortion, Metrorrhagia ORPHA:99926
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Lig4 Syndrome
Cryptorchidism, Amenorrhea, Hypothyroidism, Failure to thrive, Micropenis OMIM:606593
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea, Obesity OMIM:600955
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Oligomenorrhea, Hypergonadotropic hypogonadism, H... ORPHA:572333
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypothyroidism, Bilateral cryptorchidism, Postnatal growth retardation, Intrauterine gro... ORPHA:96179
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal vagina morphology, Abnormal labia morphology, Dyspar... ORPHA:37202
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Wilson Disease
Abnormality of the menstrual cycle, Difficulty walking, Weight loss, Increased body weight, Failu... ORPHA:905
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Postnatal growth retardation, Small ... OMIM:210900
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Grow... ORPHA:90695
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Amenorrhea, Aplasia of the vagina OMIM:277000
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99413
Mosaic Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99228
Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99226
Turner Syndrome
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:881
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Diets-Jongmans Syndrome
Cryptorchidism, Umbilical hernia, Short stature, Hypospadias, Attention deficit hyperactivity dis... OMIM:618846

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 Kdm3b

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 Kdm3b.

No publications found that use IMPC mice or data for Kdm3b.

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MGI Allele Allele Type Produced
Kdm3bem1(IMPC)Tcp Exon Deletion Mice
Kdm3btm193161(L1L2_Bact_P) Targeting vectors

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