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
decreased body length Kdm3bem1(IMPC)Tcp HET Early adult 3.09×10-06
abnormal skin morphology Kdm3bem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Kdm3bem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Kdm3bem1(IMPC)Tcp HOM   Early adult 0.00
decreased exploration in new environment Kdm3bem1(IMPC)Tcp HET Early adult 3.76×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Slit Lamp

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Gross Pathology and Tissue Collection

Images

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
Hip dysplasia, Aggressive behavior 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 10
Female infertility OMIM:619176
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte Maturation Defect 6
Female infertility OMIM:618353
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 1
Female infertility OMIM:615774
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Ataxia, Oligomenorrhea, Infertility OMIM:212840
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Streak ov... ORPHA:261529
Invasive Mole
Menometrorrhagia ORPHA:99925
Ovarian Dysgenesis 4
Short stature, Decreased body weight, Primary amenorrhea OMIM:616185
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Ataxia, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea OMIM:618117
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Short stature, Mitochondrial hypertrophy, Female infertility, Premature ovaria... OMIM:619518
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Hypergonadotropic hypogonadism, Secondary growth hormone deficiency, Short st... ORPHA:2410
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Obesity, Growth delay, Ambiguous genitalia, female, Eunuchoid... ORPHA:91
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, In... ORPHA:280356
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Panhypopituit... ORPHA:95619
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Lethargy OMIM:602390
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Diabetes ... OMIM:610628
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Secondary amenorrhea, Gait ataxia, Increa... OMIM:615300
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Gonadal... OMIM:612964
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Ataxia, Lethargy, Secondary a... ORPHA:79239
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Primary amenorrhea, Abnormality of the hypothalamus-pituitary axis, Diabetes insi... ORPHA:95496
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Weight loss, Metrorrhagia ORPHA:168816
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia, Miscarriage ORPHA:99928
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Primary gonadal insufficiency, Primary amen... ORPHA:755
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Ovarian Dysgenesis 8
Hypoplastic labia majora, Primary amenorrhea, Elevated circulating luteinizing hormone level, Eun... OMIM:618187
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Intrauterine growth retardation, Small for gestational age, Dysmenorrhea, Cryptor... ORPHA:397590
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Lig4 Syndrome
Hypothyroidism, Amenorrhea, Cryptorchidism, Micropenis, Failure to thrive OMIM:606593
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin OMIM:615238
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Small for gestational age, Cryptorchidism, Micro... ORPHA:1916
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:79085
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Amenorrhea, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism, Ovarian cyst OMIM:613546
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Dyspareunia, Abnormality of the urethra, A... ORPHA:37202
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Intrauterine growth retardation, Chordee, Miscarriage, Bilateral cryptorchidism, ... ORPHA:96179
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Bloom Syndrome
Decreased fertility in females, Intrauterine growth retardation, Small for gestational age, Azoos... OMIM:210900
Non-Acquired Panhypopituitarism
Infertility, Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Amenorrhea, Anterio... ORPHA:90695
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Small for gestational age, Decre... ORPHA:330015
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Amenorrhea, Imperforate hymen OMIM:237100
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Turner Syndrome
Primary amenorrhea, Intrauterine growth retardation, Failure to thrive in infancy, Hyperinsulinem... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Intrauterine growth retardation, Failure to thrive in infancy, Hyperinsulinem... ORPHA:99228
Monosomy X
Primary amenorrhea, Intrauterine growth retardation, Failure to thrive in infancy, Hyperinsulinem... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Intrauterine growth retardation, Failure to thrive in infancy, Hyperinsulinem... ORPHA:99413
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Short metacarpal, Tapered finger, Hyperextensibility of the finger... OMIM:303600
Diets-Jongmans Syndrome
Hip dysplasia, Aggressive behavior 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Kdm3bem1(IMPC)Tcp Exon Deletion Mice
Kdm3btm193161(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter