Gene Summary

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

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

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.

MicroCT E18.5

Embryo reconstruction

3 Images

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, Decreased body weight, Aggressive behavior, Low frustration tolerance 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
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Abnormal neuron morphology, Motor det... ORPHA:412066
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
47,Xyy Syndrome
Increased serum testosterone level, Increased circulating gonadotropin level, Impaired social int... ORPHA:8
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased serum testosterone level, D... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Decreased circulating cortisol level, Pre... ORPHA:90795
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Increased antimullerian hormone level, Abnormal circulating f... ORPHA:99429
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypergo... ORPHA:163976
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Hyperinsulinemia, Decreased body weight, Type II diabetes mel... ORPHA:2298
Ovarian Fibrothecoma
Abnormal circulating hormone concentration, Increased serum testosterone level ORPHA:314478
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Alg6-Cdg
Failure to thrive, Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Inappropriate sexual behavior, Abnormal e... ORPHA:562
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Ab... ORPHA:163971
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating aldosterone level,... ORPHA:90794
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Hypothyroidism, Fa... ORPHA:769
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Increased serum testosterone level, Increased antimullerian ... ORPHA:90797
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
49,Xxxyy Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Male hypogonadism, Primary gonadal... ORPHA:261534
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:616950
49,Xyyyy Syndrome
Decreased serum testosterone concentration, Impulsivity, Eunuchoid habitus, Male hypogonadism, Pr... ORPHA:99330
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:108420
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Increased circulating gonadotropin level ORPHA:64739
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Small for gestational age, Hypogon... OMIM:300869
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Emotional lability OMIM:609195
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia ORPHA:1020
Dopa-Responsive Dystonia
Agoraphobia, Abnormal social behavior, Depression, Anxiety, Panic attack, Emotional lability, Irr... ORPHA:255
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Emotional lability, Hypogonadism, ... OMIM:201100
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Decreased serum testosterone concentration, Eunuchoid habitus, Depressio... ORPHA:432
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum testosterone concentration, Small for gestational age, Hypergonadotropic hypogona... ORPHA:2959
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Hypoplasia of the thymus, Increased serum testosterone level, Small for gestat... OMIM:264090
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... OMIM:301077
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypogonadotropic hypogonadis... OMIM:614841
Wiedemann-Rautenstrauch Syndrome
Slender build, Failure to thrive, Increased serum testosterone level, Type II diabetes mellitus, ... ORPHA:3455
Meningioma
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... ORPHA:2495
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, H... OMIM:618841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... OMIM:308700
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Testicular atrophy, Decreased serum testosterone concentration, Hypogonadotropic hypogona... ORPHA:465508
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
46,Xy Sex Reversal 11
Decreased serum testosterone concentration, Absence of pubertal development, Elevated circulating... OMIM:273250
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Decreased circulating follicle stimulating hormone co... OMIM:614897
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Androgen insufficiency... OMIM:228300
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased serum estradiol, Male hypogon... ORPHA:168563
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Elevated circu... OMIM:305400
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Memory impairment, E... ORPHA:309271
48,Xxxy Syndrome
Type II diabetes mellitus, Abnormal social behavior, Anxiety, Hypogonadism, Abnormal aggressive, ... ORPHA:96263
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Abnormal social behavior ORPHA:309263
Childhood Absence Epilepsy
Depression, Anxiety, Low self esteem, Abnormal social behavior ORPHA:64280
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... ORPHA:90796
Leydig Cell Hypoplasia
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Female hypogonadism, ... ORPHA:755
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum testosterone concentration, Small pituitary gland, Streak ovary, Hypergonadotropi... ORPHA:2232
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Niemann-Pick Disease Type C
Apathy, Cognitive impairment, Mental deterioration, Abnormal social behavior, Depression, Progres... ORPHA:646
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:168558
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... ORPHA:95699
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Decreased response to growth hormone stimulation test, Abnormal soc... ORPHA:177907
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... ORPHA:251510
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Fg Syndrome Type 1
Slender build, Small pituitary gland, Abnormal social behavior ORPHA:93932
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Memory impairment, Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Pituitary adenoma, Self-injurious behavior, Impulsivity, Parathyroid adenoma, Abnormal social beh... ORPHA:805
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypogonadotropic hypo... OMIM:241080
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Obesit... ORPHA:1772
Alström Syndrome
Precocious puberty in females, Decreased circulating T4 concentration, Type II diabetes mellitus,... ORPHA:64
Robinow Syndrome
Decreased serum testosterone concentration, Small for gestational age ORPHA:97360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Aggressive behavior ORPHA:495875
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Slender build, Precocious puberty, Decreased response to growth hormone stimula... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Slender build, Precocious puberty, Decreased response to growth hormone stimula... ORPHA:363958
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior ORPHA:1675
Mend Syndrome
Failure to thrive, Aggressive behavior, Abnormal social behavior ORPHA:401973
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Testicular Agenesis
Increased circulating gonadotropin level, Decreased serum testosterone concentration ORPHA:325124
Williams Syndrome
Overfriendliness, Type II diabetes mellitus, Precocious puberty, Abnormal social behavior, Depres... ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Decreased body weight, Aggressive behavior, Low frustration tolerance 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.

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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