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Gene: Chst10 MGI:2138283

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Gene Summary

Name:
carbohydrate sulfotransferase 10
Synonyms:
Hnk-1st,  ST

Order Alleles

IMPC Data Collections

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 total retina thickness Chst10em1(IMPC)Hmgu HOM Early adult 4.91×10-09
decreased anxiety-related response Chst10em1(IMPC)Hmgu HOM Early adult 1.40×10-05
abnormal behavior Chst10em1(IMPC)Hmgu HOM Early adult 4.25×10-05
increased red blood cell distribution width Chst10em1(IMPC)Hmgu HOM Early adult 9.23×10-07
decreased thigmotaxis Chst10em1(IMPC)Hmgu HOM Early adult 1.55×10-05
increased spleen weight Chst10em1(IMPC)Hmgu HOM Early adult 8.37×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Chst10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Chst10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 6
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... OMIM:618078
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
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
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
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se... OMIM:615300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Depression OMIM:602079
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
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
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis OMIM:604273
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, Hypogonadotropic h... OMIM:241080
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Progressive Supranuclear Palsy
Memory impairment, Dementia, Cognitive impairment, Abnormal synaptic transmission ORPHA:683
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... ORPHA:2970
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia OMIM:264480
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Premature ovarian insufficiency, Hypospadias, Endometriosis ORPHA:363444
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hypospadias, Absent vas deferens, Papillary cystadenoma of the epididymis, Abn... ORPHA:93111
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chordee, Urogeni... OMIM:618820
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus ORPHA:2470
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Abnormality of the uterus, Delayed puberty ORPHA:3138
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... OMIM:618419
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morphology, Micropenis, Vagina... ORPHA:1655
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... ORPHA:2745
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Microsporidiosis
Abnormality of the parathyroid gland, Thyroiditis, Abnormal endometrium morphology, Abnormal fall... ORPHA:2552
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Decreased fertility in m... ORPHA:84
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Alg9-Cdg
Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Bicornuate uterus... OMIM:269150
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Fryns Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum OMIM:229850
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Abnormal thymus morphology, Bicornuate uterus, Micropenis, Vaginal a... OMIM:219000
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... OMIM:270400
Norrie Disease
Diabetes mellitus, Cryptorchidism, Erectile dysfunction, Uterine rupture, Delayed puberty ORPHA:649
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Bicornuate uterus, Del... OMIM:181450
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Limb-Mammary Syndrome
Aplasia of the uterus, Primary amenorrhea, Aplasia of the ovary ORPHA:69085
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Abnormality of th... ORPHA:201
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Okamoto Syndrome
Bifid uterus ORPHA:2729
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia ORPHA:93271
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl... ORPHA:709
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus ORPHA:2363
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias OMIM:265380
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... OMIM:249000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Uni... OMIM:619503
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labi... OMIM:261540
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Hypoplasia of the thymus, Abnor... ORPHA:567
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Clitoral hyper... OMIM:268300
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, A... ORPHA:199
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... ORPHA:438213
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... OMIM:601803

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 Chst10

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 Chst10.

No publications found that use IMPC mice or data for Chst10.

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
Chst10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chst10em1(IMPC)Hmgu Exon Deletion Mice

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