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Gene: Kdm5b MGI:1922855

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Gene Summary

Name:
lysine (K)-specific demethylase 5B
Synonyms:
Jarid1b,  Plu1,  2010009J12Rik,  PLU-1,  D1Ertd202e,  Rb-Bp2,  2210016I17Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
absent pinna reflex Kdm5bem1(IMPC)Wtsi HOM Early adult 3.89×10-10
preweaning lethality, incomplete penetrance Kdm5bem1(IMPC)Wtsi HOM   Early adult 0.00
decreased body length Kdm5bem1(IMPC)Wtsi HOM   Early adult 1.04×10-05

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Viewing: all phenotypes
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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.

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Anti-nuclear antibody assay

Images

1 Images

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Legacy Phenotype Associated Images
Kdm5bem1(IMPC)Wtsi
foot, polydactyly, polysyndactyly, foot digit 1, HOM, Female, WTSI

Human diseases caused by Kdm5b 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 Kdm5b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia ORPHA:88616
Autosomal Dominant Non-Syndromic Intellectual Disability
Oculogyric crisis, Dystonia ORPHA:178469

The table below shows human diseases predicted to be associated to Kdm5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Asherman Syndrome
Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua... ORPHA:137686
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Progesterone Resistance
Female infertility OMIM:264080
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Decreased fertility in femal... ORPHA:1916
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Hydatidiform Mole
Miscarriage, Enlarged uterus, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Cryptorchidism, Decreased serum test... ORPHA:432
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... ORPHA:99429
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Hirsutism, Abnormal vagina morphology, Thick eyebrow, Hypopla... ORPHA:247768
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Abnormal hair morphology, Hypoplasia of the ovary, Nephrogenic ... ORPHA:3130
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha... OMIM:110100
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... ORPHA:325124
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Hypoplasia of the uterus, Alopecia OMIM:600705
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Hirsutism, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian t... OMIM:158330
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Sparse hair, Alopecia, Hype... OMIM:241080
Aromatase Deficiency
Generalized hirsutism, Female infertility, Type II diabetes mellitus, Ambiguous genitalia, female... ORPHA:91
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Thick eyebrow, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypo... ORPHA:572333
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Miscarriage, Abnormal external... ORPHA:90794
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Kennerknecht syndrome
Hypoplasia of the uterus, Agonadism, Long eyelashes OMIM:600908
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Coffin-Siris Syndrome 9
Sparse scalp hair, Hypertrichosis, Hypoplasia of the uterus, Decreased response to growth hormone... OMIM:615866
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Sparse eyebrow, Elevated circulating luteinizing hormone level, Frontal... OMIM:618419
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturi... OMIM:137920
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Small scrotum, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Turner Syndrome
Thyroiditis, Female infertility, Abnormality of the ovary, Type II diabetes mellitus, Hyperinsuli... ORPHA:881
Mosaic Monosomy X
Thyroiditis, Female infertility, Abnormality of the ovary, Type II diabetes mellitus, Hyperinsuli... ORPHA:99228
Monosomy X
Thyroiditis, Female infertility, Abnormality of the ovary, Type II diabetes mellitus, Hyperinsuli... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Thyroiditis, Female infertility, Abnormality of the ovary, Type II diabetes mellitus, Hyperinsuli... ORPHA:99413
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Peters-Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Facial hypertrichosis, Clitoral ... OMIM:261540
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Congenital hypothyroidism, Anterior hypopituitarism, Clito... ORPHA:709
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia ORPHA:88616
Autosomal Dominant Non-Syndromic Intellectual Disability
Oculogyric crisis, Dystonia ORPHA:178469

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 Kdm5b

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 Kdm5b.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Evidence for context-dependent functions of KDM5B in prostate development and prostate cancer. Oncotarget (November 2020) Kdm5btm1c(EUCOMM)Wtsi PMC7679033
KDM5B Is Essential for the Hyperactivation of PI3K/AKT Signaling in Prostate Tumorigenesis. Cancer research (August 2020) Kdm5btm1c(EUCOMM)Wtsi Kdm5btm1a(EUCOMM)Wtsi 32868382
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Kdm5bem1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Kdm5bem1(IMPC)Wtsi Kdm5bem1(IMPC)Wtsi PMC6671969
The Lysine Demethylase KDM5B Regulates Islet Function and Glucose Homeostasis. Journal of diabetes research (July 2019) Kdm5btm1d(EUCOMM)Wtsi PMC6701283
RSV-Induced H3K4 Demethylase KDM5B Leads to Regulation of Dendritic Cell-Derived Innate Cytokines and Exacerbates Pathogenesis In Vivo. PLoS pathogens (June 2015) Kdm5btm1c(EUCOMM)Wtsi PMC4470918
Epigenetic Regulation of Angiogenesis by JARID1B-Induced Repression of HOXA5. Arteriosclerosis, thrombosis, and vascular biology (May 2015) Kdm5btm1c(EUCOMM)Wtsi 26023081
The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3. PLoS genetics (April 2013) Kdm5btm1c(EUCOMM)Wtsi Kdm5btm1a(EUCOMM)Wtsi PMC3630093
Jarid1b targets genes regulating development and is involved in neural differentiation. The EMBO journal (November 2011) Kdm5btm1c(EUCOMM)Wtsi Kdm5btm1a(EUCOMM)Wtsi PMC3243600

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MGI Allele Allele Type Produced
Kdm5btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kdm5btm39833(pL1L2_GT0_bsd_frt15_neo_barcode) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kdm5bem1(IMPC)Wtsi Deletion Mice

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