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Gene: Sult1e1 MGI:98431

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

sulfotransferase family 1E, member 1

Synonyms:

Ste, EST

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Sult1e1 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.

Human diseases associated with Sult1e1 (0 diseases)
Human diseases predicted to be associated with Sult1e1 (248 diseases)

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

The table below shows human diseases predicted to be associated to Sult1e1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:619267
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration	OMIM:620478
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc...	OMIM:619271
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism	OMIM:219050
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:273800
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar...	ORPHA:98798
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Menorrhagia, Impaired platelet aggregation	OMIM:124900
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Menorrhagia, Impaired epineph...	OMIM:615888
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired ristocetin-induced platelet aggregation, Impaired collagen-indu...	OMIM:614201
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Partington Syndrome	Macroorchidism	ORPHA:94083
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:146110
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg...	OMIM:187950
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea	OMIM:614858
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Mccune-Albright Syndrome	Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu...	ORPHA:562
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s...	ORPHA:753
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620438
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Polyembryoma	Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio...	ORPHA:180229
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen...	OMIM:155100
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Bleeding Disorder, Platelet-Type, 21	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor...	OMIM:617443
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Fragile X Syndrome	Macroorchidism, postpubertal, Periventricular heterotopia, Congenital macroorchidism	OMIM:300624
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H...	ORPHA:752
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr...	OMIM:187800
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo...	OMIM:610628
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen...	OMIM:139090
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro...	OMIM:616030
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Quebec Platelet Disorder	Thrombocytopenia, Menorrhagia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:612370
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Von Willebrand Disease, Type 3	Thrombocytopenia, Prolonged bleeding time, Menorrhagia, Impaired platelet aggregation	OMIM:277480
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Bleeding Disorder, Platelet-Type, 12	Menorrhagia, Impaired platelet aggregation	OMIM:605735
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Wolfram Syndrome 2	Decreased circulating antibody level, Oligomenorrhea, Primary amenorrhea, Diabetes insipidus, Imp...	OMIM:604928
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614880
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h...	OMIM:202150
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Menometrorrhagia, Meno...	ORPHA:849
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Fragile X Syndrome	Macroorchidism	ORPHA:908
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology...	ORPHA:457083
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Menorrhagia, Impaired platelet aggregation	OMIM:614076
Hermansky-Pudlak Syndrome 5	Impaired ADP-induced platelet aggregation, Metrorrhagia, Thrombocytopenia, Absent platelet dense ...	OMIM:614074
Von Willebrand Disease	Thrombocytopenia, Abnormality of thrombocytes, Abnormal platelet function, Menorrhagia	ORPHA:903
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci...	ORPHA:90790
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg...	OMIM:153670
46,Xy Sex Reversal 8	Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal	OMIM:614279
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Polymicrogyria	OMIM:618874
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ...	OMIM:601399
Persistent Müllerian Duct Syndrome	Male pseudohermaphroditism, Cryptorchidism	ORPHA:2856
Bernard-Soulier Syndrome	Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag...	ORPHA:274
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Von Willebrand Disease, Type 1	Prolonged bleeding time, Menorrhagia, Impaired platelet aggregation	OMIM:193400
Hermansky-Pudlak Syndrome 3	Abnormal number of dense granules, Impaired platelet aggregation	OMIM:614072
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib	OMIM:603585
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Menorrhagia, Thrombocytosis, Autoimmune thrombocytopenia, Edema	ORPHA:324636
Bleeding Disorder, Platelet-Type, 17	Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Impaired collagen-induced pla...	OMIM:187900
Lymphatic Malformation 10	Hydrocele testis	OMIM:619369
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con...	ORPHA:90674
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Impaired collagen-induced p...	OMIM:619374
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation, Menorrhagia	OMIM:619172
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Ciliary Dyskinesia, Primary, 12	Immotile sperm, Reduced sperm motility	OMIM:612650
Ciliary Dyskinesia, Primary, 26	Infertility, Reduced sperm motility	OMIM:615500
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Trisomy 20P	Macroorchidism, Hypospadias, Cryptorchidism	ORPHA:261318
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased circulating ost...	ORPHA:330015
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:79443
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility	OMIM:612649
Wiskott-Aldrich Syndrome	Abnormality of the menstrual cycle, Hypoplasia of the thymus, Abnormal platelet morphology, Throm...	ORPHA:906
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Increased proportion of CD25+ mast cells, Pleural effusion,...	ORPHA:167
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation	OMIM:300835
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe...	OMIM:137920
Ciliary Dyskinesia, Primary, 22	Infertility, Reduced sperm motility	OMIM:615444
Noonan Syndrome	Hypogonadotropic hypogonadism, Abnormal platelet function, Delayed menarche, Lymphedema	ORPHA:648
Hermansky-Pudlak Syndrome 6	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:614075
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm	OMIM:613808
Hermansky-Pudlak Syndrome 8	Menorrhagia, Impaired platelet aggregation	OMIM:614077
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Mgat2-Cdg	Decreased circulating IgG level, Hydrops fetalis, Impaired platelet aggregation, Abnormality of t...	ORPHA:79329
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm	OMIM:242670
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens...	OMIM:608233
Sitosterolemia 1	Giant platelets, Thrombocytopenia, Impaired platelet aggregation	OMIM:210250
Alström Syndrome	Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ...	ORPHA:64
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility	ORPHA:730
Von Hippel-Lindau Syndrome	Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Pap...	OMIM:193300
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Impaired platelet aggregation, Polyhydramnios, Hyperactive renin-angiotensin ...	OMIM:241200
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
Aspartylglucosaminuria	Macroorchidism	OMIM:208400
Proteus Syndrome	Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o...	ORPHA:744
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas...	ORPHA:273
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Vaginitis, Thrombocytosis, Imp...	ORPHA:2968

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 Sult1e1

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 Sult1e1.

No publications found that use IMPC mice or data for Sult1e1.

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
Sult1e1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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