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Gene: Kdm3b MGI:1923356

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Gene Summary

Name:
KDM3B lysine (K)-specific demethylase 3B
Synonyms:
5830462I21Rik,  JHDM2B,  Jmjd1b

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
decreased exploration in new environment Kdm3bem1(IMPC)Tcp HET Early adult 3.75×10-05
increased mean corpuscular volume Kdm3bem1(IMPC)Tcp HET Early adult 5.15×10-06
abnormal facial morphology Kdm3bem1(IMPC)Tcp HOM E18.5 0.00
decreased body length Kdm3bem1(IMPC)Tcp HET Early adult 3.09×10-06
decreased prepulse inhibition Kdm3bem1(IMPC)Tcp HET Early adult 1.06×10-05
preweaning lethality, incomplete penetrance Kdm3bem1(IMPC)Tcp HOM   Early adult 0.00
hemorrhage Kdm3bem1(IMPC)Tcp HOM E18.5 0.00
abnormal sternum morphology Kdm3bem1(IMPC)Tcp HET Early adult 0.00
abnormal skin morphology Kdm3bem1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

96 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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Eye Morphology

Images Slit Lamp

27 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Kdm3b 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 Kdm3b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diets-Jongmans Syndrome
Cryptorchidism, Umbilical hernia, Short stature, Hypospadias OMIM:618846

The table below shows human diseases predicted to be associated to Kdm3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Ataxia, Secondary amenorrhea, Absence of pubertal development, Pri... OMIM:212840
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Ovarian Dysgenesis 4
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... OMIM:616185
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Lo... OMIM:619518
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Invasive Mole
Menometrorrhagia ORPHA:99925
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Ataxia, Difficulty walking, Amenorrhea OMIM:619425
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... OMIM:612561
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin... ORPHA:2169
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... OMIM:615300
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Ataxia, Increased circulating gonad... ORPHA:243
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea OMIM:602390
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Ovarian Dysgenesis 6
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... OMIM:618078
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Short stature, Failure to thrive, Adrenal hypop... ORPHA:95496
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Diamond-Blackfan Anemia 7
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia OMIM:612562
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... ORPHA:453533
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Absent thumb, Erythroid hypoplasia, Short thumb, P... ORPHA:124
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Increased mean corpuscular volume, Thrombocytopenia, Proximal placement of thumb ORPHA:261250
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... ORPHA:397590
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hy... OMIM:105650
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Ataxia, Postnatal gr... OMIM:616113
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... ORPHA:90695
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... ORPHA:99226
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Clubbing, Hypochromic microcytic anemia ORPHA:97214
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Diets-Jongmans Syndrome
Cryptorchidism, Umbilical hernia, Short stature, Hypospadias OMIM:618846

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 Kdm3b

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 Kdm3b.

No publications found that use IMPC mice or data for Kdm3b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kdm3bem1(IMPC)Tcp Exon Deletion Mice
Kdm3btm193161(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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