Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hydroxysteroid (17-beta) dehydrogenase 14
Synonyms:
retSDR3,  0610039E24Rik,  Dhrs10

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Hsd17b14 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 Hsd17b14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Decreased circulating tota... OMIM:602668
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Ovarian cyst, Increased circulating gonadotropin... ORPHA:91348
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Decreased... OMIM:193670
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Primary amenorrhea, Hypoplasia of th... OMIM:612885
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Young Syndrome
Azoospermia OMIM:279000
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Hypoplasia of the thymus, Agammaglobulinemia, Decreased circulating Ig... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Increased circulating IgE l... OMIM:618944
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Increased circulating Ig... ORPHA:330015
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Gonadal dysgenesis, Decreased circulating IgG level, Decreased c... OMIM:611926
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, H... ORPHA:432
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Aplasia of the eccrine sweat gla... OMIM:300291
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Increased c... ORPHA:449432
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary ame... ORPHA:79239
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Elevated... ORPHA:90793
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Oligomenorrhea, Oligospermia, Adrenal hyperplasia, Precocious p... ORPHA:786
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgE level, Inc... ORPHA:449400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Increased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Bloom Syndrome
Azoospermia, Oligospermia, Decreased circulating antibody level, Decreased circulating IgG level,... ORPHA:125
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Decreased circulating IgA level, Dec... OMIM:210900
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Gapo Syndrome
Hypogonadism, Dysmenorrhea, Oligospermia, Amenorrhea ORPHA:2067
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Male infertility, Micropenis, A... ORPHA:1772
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Dysgammaglobulinemia, Decr... OMIM:308240
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch... ORPHA:91
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Decreased testicular size, Decreased fert... ORPHA:90791
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Anxiety ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Elevated circulating luteinizing hormone level, Oligospermia... ORPHA:95699
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Oligospermia OMIM:614813
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Irritability, Decreased circula... OMIM:275350
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Igg4-Related Kidney Disease
Prostatitis, Increased circulating IgG1 level, Increased circulating IgE level, Sialadenitis, Abn... ORPHA:449395
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Decreased serum complement factor B, Abnormal salivary gland morphology, Polycy... ORPHA:2298
Ataxia-Telangiectasia
Defective B cell differentiation, Decreased circulating IgG2 level, Female hypogonadism, Hypoplas... OMIM:208900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased lymphocyte proli... ORPHA:169160
Pgm3-Cdg
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgA level... ORPHA:443811
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Coccidioidomycosis
Increased circulating IgM level, Abnormal sperm morphology, Increased circulating IgG level, Abno... ORPHA:228123
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Anoperineal fistula, Decreased T... OMIM:618213
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Increased serum interferon-gamma level, Irregular menstruation, Increased circulati... OMIM:256040
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Abnormality of the ductus choledochus, Increased circulating IgM... ORPHA:562639
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Increased circulating IgA ... ORPHA:29073
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Abnormality... ORPHA:449563
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Rectovaginal fistula, Decreased lymphocyte proli... ORPHA:35078
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Brucellosis
Epididymitis, Increased circulating IgM level, Orchitis, Increased circulating IgG level, Spontan... ORPHA:1304
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Tetrasomy 9P
Infertility, Cryptorchidism, Oligospermia, Absent gallbladder, Micropenis ORPHA:3310
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level, Parotitis ORPHA:449427
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Increased circulating IgM level, Decreased circulating ... ORPHA:2442
Alström Syndrome
Hyoplasia of the Leydig cells, Oligospermia, Irregular menstruation, Hypergonadotropic hypogonadi... ORPHA:64
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Male infertility, Hypospadias OMIM:163950
Cystinosis, Nephropathic
Male infertility, Male hypogonadism OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700

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 Hsd17b14

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 Hsd17b14.

No publications found that use IMPC mice or data for Hsd17b14.

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MGI Allele Allele Type Produced
Hsd17b14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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