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Gene: Kdm5c MGI:99781

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Gene Summary

Name:
lysine 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

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.

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
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Low frustration tolerance, Decreased body weight, Aggressive behavior, Hyperac... OMIM:300534
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Aggressive behavior ORPHA:85279

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Depression, Decreased circulating dehydroepiandrosterone concentration, Inc... OMIM:610489
47,Xyy Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Increased se... ORPHA:8
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Increased serum testosterone level, Increased circulating corti... OMIM:615962
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... ORPHA:168782
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Reduced social reciprocity, Aggressive behavior, Polyphagia ORPHA:329249
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Polyembryoma
Increased serum serotonin, Abnormal circulating gonadotropin concentration, Increased serum testo... ORPHA:180229
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t... ORPHA:163976
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Abnormal circulating f... ORPHA:99429
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration ORPHA:314478
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Rabson-Mendenhall Syndrome
Precocious puberty, Polydipsia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hy... ORPHA:769
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal circulating estrogen level, Increased se... ORPHA:90797
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration, Failure to thrive ORPHA:79320
Hsd10 Disease
Dysphagia, Short attention span, Abnormal social behavior ORPHA:391417
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Memory impairm... ORPHA:251623
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:64739
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... ORPHA:1020
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t... ORPHA:163971
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:616950
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:108420
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Decreased response to growth ho... ORPHA:3455
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Short attention span, Restless legs, Reduced social reciprocit... ORPHA:2828
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Hypoplasia of the thymus, Increased serum testosterone level, Dysphagia, Small... OMIM:264090
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
49,Xxxyy Syndrome
Male hypogonadism, Decreased serum testosterone concentration, Eunuchoid habitus, Low frustration... ORPHA:261534
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Spermatogenic Failure 44
Abnormal circulating testosterone concentration OMIM:619044
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
49,Xyyyy Syndrome
Male hypogonadism, Decreased serum testosterone concentration, Eunuchoid habitus, Low frustration... ORPHA:99330
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:620103
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Emotional lability, Adren... ORPHA:99889
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Abnormal social behavior, Hyperactivity ORPHA:530983
48,Xxxy Syndrome
Hypogonadism, Obesity, Type II diabetes mellitus, Irritability, Attention deficit hyperactivity d... ORPHA:96263
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Emotional lability OMIM:609195
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Short attention span, Abnormal social behavior, Progressive psychomotor deter... ORPHA:309263
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Emotional lability, ... OMIM:201100
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Decreased serum testosterone c... OMIM:305400
Spermatogenic Failure 28
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:618086
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Pseudobulbar paralysis ORPHA:101006
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo... OMIM:219090
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:2959
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone deficienc... OMIM:308700
Meningioma
Increased circulating prolactin concentration, Emotional lability, Neoplasm of the posterior pitu... ORPHA:2495
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Fg Syndrome Type 1
Small pituitary gland, Slender build, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:93932
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Absence of secondary sex characteristics, Absence of pubertal deve... ORPHA:432
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum testosterone concentration, Decreased serum estradiol, Hypothalamic gonadotropin-... OMIM:618841
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... ORPHA:453533
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ob... ORPHA:177907
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin d... ORPHA:95513
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Absen... OMIM:273250
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... OMIM:228300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased ci... OMIM:614897
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:614839
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia... ORPHA:805
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Elevated circulating luteinizing hormone level, Decreased serum testost... ORPHA:3044
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Low frustration tolerance... ORPHA:646
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353281
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypothyroidism, Weight... ORPHA:465508
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Steinert Myotonic Dystrophy
Mental deterioration, Male hypogonadism, Depression, Oral-pharyngeal dysphagia, Decreased respons... ORPHA:273
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal... ORPHA:90790
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Memory impairment, Abnormal social behavior ORPHA:314647
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Mental deterioration, Insulin-resistant diabetes mellitus, Decreased r... ORPHA:3464
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Inappro... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Inappro... ORPHA:363958
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:755
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Mend Syndrome
Aggressive behavior, Failure to thrive, Abnormal social behavior, Hyperactivity ORPHA:401973
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353277
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Decre... ORPHA:2232
Alström Syndrome
Precocious puberty in females, Elevated circulating thyroid-stimulating hormone concentration, De... ORPHA:64
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... ORPHA:251510
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:495875
Williams Syndrome
Precocious puberty, Depression, Failure to thrive in infancy, Obesity, Type II diabetes mellitus,... ORPHA:904
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Obesity, Streak ovary, Hypothyroidism, Delayed pubert... ORPHA:1772
46,Xx Sex Reversal 2
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:278850
Robinow Syndrome
Decreased serum testosterone concentration, Small for gestational age ORPHA:97360
Testicular Agenesis
Decreased serum testosterone concentration, Increased circulating gonadotropin level ORPHA:325124
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Low frustration tolerance, Decreased body weight, Aggressive behavior, Hyperac... OMIM:300534
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Aggressive behavior ORPHA:85279

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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Second Oncogenic Hit Determines the Cell Fate of ETV6-RUNX1 Positive Leukemia. Frontiers in cell and developmental biology (July 2021) Kdm5ctm1c(EUCOMM)Hmgu PMC8320889

Order Mouse and ES Cells

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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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