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Gene: Kdm5c MGI:99781

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Gene Summary

Name:
lysine (K)-specific demethylase 5C
Synonyms:
D930009K15Rik,  Jarid1c,  Smcx

Order Alleles

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
preweaning lethality, complete penetrance Kdm5ctm1d(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Kdm5c 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 Kdm5c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Delayed speech and language development, Aggressive behavior ORPHA:85279
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Decreased body weight, Delayed speech and language development, Failure to t... OMIM:300534

The table below shows human diseases predicted to be associated to Kdm5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Anxiety, Increased circulating cortisol level, Decreased circ... OMIM:610489
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Motor deteriorati... ORPHA:412066
Cln3 Disease
Aggressive behavior, Mental deterioration, Dementia, Depression, Anxiety, Increased circulating a... ORPHA:228346
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Weight loss, Anxi... ORPHA:1501
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone level, Premature thelarche... ORPHA:90795
47,Xyy Syndrome
Delayed speech and language development, Increased circulating gonadotropin level, Increased seru... ORPHA:8
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Increased serum serotonin, Abno... ORPHA:180229
Non-Functioning Pituitary Adenoma
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... ORPHA:91349
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Increased se... ORPHA:91348
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Delayed puberty, Elevated circulat... ORPHA:99429
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Ovarian Fibrothecoma
Abnormal circulating hormone concentration, Increased serum testosterone level ORPHA:314478
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Absence of secondary sex characteristics, Type II diabetes mellitus... ORPHA:163976
Alg6-Cdg
Failure to thrive, Increased circulating androgen concentration, Puberty and gonadal disorders ORPHA:79320
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Diabeti... ORPHA:2298
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased ser... ORPHA:562
Ane Syndrome
Motor neuron atrophy, Decreased response to growth hormone stimulation test, Anterior pituitary h... ORPHA:157954
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
X-Linked Intellectual Disability, Cilliers Type
Shyness, Absence of secondary sex characteristics, Male hypogonadism, Failure to thrive, Increase... ORPHA:163971
49,Xxxyy Syndrome
Primary gonadal insufficiency, Delayed speech and language development, Eunuchoid habitus, Male h... ORPHA:261534
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... ORPHA:90794
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Emotional ... ORPHA:179494
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, In... ORPHA:769
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Partial Androgen Insensitivity Syndrome
Increased serum estradiol, Abnormal circulating estrogen level, Increased serum testosterone leve... ORPHA:90797
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:616950
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
49,Xyyyy Syndrome
Primary gonadal insufficiency, Delayed speech and language development, Eunuchoid habitus, Male h... ORPHA:99330
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:108420
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Small for gestational age, Increased circulating gonadotropin level, Decreased seru... OMIM:300869
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:64739
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Suicidal ideation, Atypical pulmonary carcinoid tumor, Adre... ORPHA:99889
Spastic Paraplegia 26, Autosomal Recessive
Emotional lability, Decreased serum testosterone concentration OMIM:609195
Spermatogenic Failure 77
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:620103
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:615842
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Emotional lability, Failure to thrive, Decreased serum testosterone concentration, ... OMIM:201100
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Absence of secondary sex characteristics, Eunuchoid habitus, Decreased serum... ORPHA:432
Spermatogenic Failure 28
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618086
Progeria-Short Stature-Pigmented Nevi Syndrome
Cognitive impairment, Decreased serum estradiol, Small for gestational age, Delayed puberty, Hype... ORPHA:2959
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:301077
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Failure to thrive, Hypoplasia of the thymus, Increased serum testoster... OMIM:264090
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Hypoplasia of the ov... OMIM:614841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308700
Wiedemann-Rautenstrauch Syndrome
Increased serum estradiol, Increased circulating prolactin concentration, Increased serum testost... ORPHA:3455
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Secondary growth hormone deficien... ORPHA:2495
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum ... OMIM:618841
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Apathy, Testicular atrophy, Diabetes mellitus, Decreased serum testo... ORPHA:465508
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614897
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased circulating dihydrotestosterone concentration, Androgen insufficiency, Male hypogonadis... OMIM:228300
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased cirrcu... OMIM:273250
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Testi... ORPHA:52901
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614839
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Increased circulating gonadotropin level, Decreased... ORPHA:168563
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche ORPHA:2976
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... ORPHA:785
Aarskog-Scott Syndrome
Failure to thrive, Delayed puberty, Testicular atrophy, Elevated circulating luteinizing hormone ... OMIM:305400
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Decr... ORPHA:3044
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Increased circulating dehydroepiandrosterone... OMIM:158330
Steinert Myotonic Dystrophy
Hyperinsulinemia, Aggressive behavior, Decreased response to growth hormone stimulation test, Cog... ORPHA:273
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Leydig Cell Hypoplasia
Primary gonadal insufficiency, Female hypogonadism, Absence of secondary sex characteristics, Mal... ORPHA:755
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... ORPHA:90796
Familial Glucocorticoid Deficiency
Precocious puberty, Decreased circulating aldosterone level, Weight loss, Decreased circulating d... ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal hyperplasia, Fail... ORPHA:90790
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... ORPHA:95699
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Decreased serum estradiol, Absence of secondary sex characteristic... ORPHA:2232
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... ORPHA:289548
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... ORPHA:293978
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... ORPHA:168558
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
46,Xy Partial Gonadal Dysgenesis
Primary gonadal insufficiency, Decreased serum estradiol, Absence of secondary sex characteristic... ORPHA:251510
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... ORPHA:64
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testos... ORPHA:1772
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Diabetes mellitus, Decreased seru... OMIM:241080
Robinow Syndrome
Small for gestational age, Decreased serum testosterone concentration ORPHA:97360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Aggressive behavior, Decreased serum testosterone concentration ORPHA:495875
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Testicular Agenesis
Increased circulating gonadotropin level, Decreased serum testosterone concentration ORPHA:325124
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, De... OMIM:201750
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Delayed speech and language development, Aggressive behavior ORPHA:85279
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Decreased body weight, Delayed speech and language development, Failure to t... OMIM:300534

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 Kdm5c

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 Kdm5c.

No publications found that use IMPC mice or data for Kdm5c.

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MGI Allele Allele Type Produced
Kdm5ctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kdm5ctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kdm5ctm40984(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kdm5ctm1d(EUCOMM)Hmgu Deletion allele (post-Flp and Cre with no reporter) Mice
Kdm5ctm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice

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