Gene Summary

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

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

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

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
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Aggressive behavior ORPHA:85279
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Low frustration tolerance, Aggressive behavior OMIM:300534

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Abnormal neuron morpholo... ORPHA:412066
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
47,Xyy Syndrome
Impulsivity, Impaired social interactions, Increased circulating gonadotropin level, Increased se... ORPHA:8
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Functioning Gonadotropic Adenoma
Panhypopituitarism, Increased circulating gonadotropin level, Anterior hypopituitarism, Pituitary... ORPHA:91348
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Complete Androgen Insensitivity Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Elevated circulating luteinizing... ORPHA:99429
Polyembryoma
Increased serum testosterone level, Increased serum serotonin, Isosexual precocious puberty, Abno... ORPHA:180229
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Male hypogonadism, Increased circulating gonadotropin level, Hyperg... ORPHA:163976
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
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
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Abnormality of circulating leptin level, Abnorma... ORPHA:2298
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Increased circulating gonadotropin level, Shyness, Hypergonadotropic hypogonad... ORPHA:163971
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Decreased serum testosterone concentration, Irritability, Failure to thrive, ... OMIM:201100
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased circulating androgen concentration, Insulin-resistant diabetes mellitus... ORPHA:769
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal circulating estrogen level, Increased se... ORPHA:90797
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
49,Xxxyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Decreased serum testosterone concent... ORPHA:261534
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Decreased serum testosterone concent... ORPHA:99330
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:64739
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Emotional lability OMIM:609195
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Semantic dementia, Memory impairment ORPHA:1020
Dopa-Responsive Dystonia
Depression, Abnormal social behavior, Agoraphobia, Emotional lability, Panic attack, Irritability... ORPHA:255
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Impulsivity, Aggressive behavior ORPHA:101039
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Anxiety, Abnormal social behavior ORPHA:444002
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Absence of secondary sex characteristics, Absence of pubertal deve... ORPHA:432
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased s... ORPHA:2959
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Memory impairment, Obesit... ORPHA:2495
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased serum testosterone level OMIM:264090
Wiedemann-Rautenstrauch Syndrome
Slender build, Increased serum testosterone level, Increased serum estradiol, Increased circulati... ORPHA:3455
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased circulating gonadotropin concentration, Delayed puberty, Decreased serum testosterone c... OMIM:614841
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Apathy, Weight loss, Decreased serum testosterone concentration, Testicular atrop... ORPHA:465508
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Female hypogonadism, Delayed puberty, Decreased serum... ORPHA:52901
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Absence of... OMIM:273250
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Decreased serum testos... ORPHA:168563
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Type ... ORPHA:3044
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Delayed puberty, Decreased serum testosterone con... OMIM:305400
Metachromatic Leukodystrophy, Adult Form
Dementia, Depression, Abnormal social behavior, Emotional lability, Progressive psychomotor deter... ORPHA:309271
48,Xxxy Syndrome
Abnormal social behavior, Obesity, Irritability, Anxiety, Type II diabetes mellitus, Hypogonadism... ORPHA:96263
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Secondary hyperparathyroidism, Aggressive behavior, Hypergon... ORPHA:273
Childhood Absence Epilepsy
Low self esteem, Abnormal social behavior, Anxiety, Depression ORPHA:64280
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Decreased serum testosterone concentration, Decreased circulating luteini... OMIM:228300
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability ORPHA:309263
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... ORPHA:90796
Leydig Cell Hypoplasia
Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Abse... ORPHA:755
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Familial Glucocorticoid Deficiency
Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroepiandroster... ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Increased circulating... ORPHA:90790
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2232
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bipolar affective disorder, Disinhibition, Aggressive behav... ORPHA:646
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:289548
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:168558
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Anterior pituitary hypoplas... ORPHA:177907
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Increased circulating gonadotropin level, Hypergo... ORPHA:251510
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Aggressive behavior, Abnormal social behavior ORPHA:314647
Fg Syndrome Type 1
Slender build, Abnormal social behavior, Small pituitary gland ORPHA:93932
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Emotional lability ORPHA:309256
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Aggressive behavior, Depression, Pheochromoc... ORPHA:805
45,X/46,Xy Mixed Gonadal Dysgenesis
Increased circulating gonadotropin level, Hypothyroidism, Streak ovary, Delayed puberty, Decrease... ORPHA:1772
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevated circulatin... OMIM:241080
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased circul... ORPHA:64
Robinow Syndrome
Decreased serum testosterone concentration, Small for gestational age ORPHA:97360
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Overfriendliness, Inappropriate laughter, Primary adrenal insufficiency, Hypothyro... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Overfriendliness, Inappropriate laughter, Primary adrenal insufficiency, Hypothyro... ORPHA:363958
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Aggressive behavior ORPHA:495875
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Failure to thrive ORPHA:401973
Testicular Agenesis
Decreased serum testosterone concentration, Increased circulating gonadotropin level ORPHA:325124
Williams Syndrome
Overfriendliness, Depression, Hypothyroidism, Abnormal social behavior, Failure to thrive in infa... ORPHA:904
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Aggressive behavior ORPHA:85279
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Low frustration tolerance, Aggressive behavior 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
Kdm5ctm1d(EUCOMM)Hmgu Deletion allele (post-Flp and Cre with no reporter) Mice
Kdm5ctm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Kdm5ctm40984(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) Targeting vectors
Kdm5ctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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