Gene Summary

Name:
bromodomain and WD repeat domain containing 1
Synonyms:
D530019K20Rik,  G1-403-16,  repro5,  Wdr9,  5330419I02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Brwd1em1(IMPC)Tcp HOM   Early adult 3.61×10-05
small testis Brwd1em1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology Brwd1em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Brwd1em1(IMPC)Tcp HOM Early adult 0.00
female infertility Brwd1em1(IMPC)Tcp HOM Early adult 0.00
increased circulating HDL cholesterol level Brwd1em1(IMPC)Tcp HOM   Early adult 5.28×10-05
male infertility Brwd1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Brwd1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Human diseases caused by Brwd1 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 Brwd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Nondisjunction
Decreased fertility OMIM:158250
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
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
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Young Syndrome
Azoospermia OMIM:279000
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:306000
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenome... OMIM:612526
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:614837
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Diabetes mellitus, Hyperlipidemia, Hypertriglyceridemia OMIM:610947
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Decreased circu... OMIM:616829
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypogonadism, Hypercholesterolemia, Diabetes melli... ORPHA:181393
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Varicocele, Micropenis, Male infertility,... ORPHA:8
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Adrenal Hypoplasia, Congenital
Oligospermia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precocious puberty OMIM:300200
Spermatogenic Failure 28
Decreased testicular size, Azoospermia OMIM:618086
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... OMIM:616828
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism OMIM:240950
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Functioning Gonadotropic Adenoma
Oligospermia, Infertility, Macroorchidism, postpubertal, Amenorrhea, Abnormality of the menstrual... ORPHA:91348
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ovarian insufficiency, Decrea... OMIM:612885
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni... ORPHA:753
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... OMIM:228300
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Oligomenorrhea, Hypogonadism, Amenorrhea ORPHA:91351
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Premature ovarian insu... ORPHA:79237
Temple Syndrome
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia, Cryptorchidism,... OMIM:616222
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Partial Androgen Insensitivity Syndrome
Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A... ORPHA:90797
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency OMIM:619518
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clit... ORPHA:528
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... OMIM:278000
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility OMIM:313200
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... ORPHA:330015
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseudohermaphroditism, Pre... ORPHA:786
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Hyperlipidemia, Ambiguous genitalia, fem... ORPHA:91
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ring Chromosome 21 Syndrome
Infertility, Amenorrhea, Azoospermia ORPHA:1445
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Elevated circulati... ORPHA:370
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Urogenital sinus anomaly, Micropenis, Abnormal sex determination, Male infertility, ... ORPHA:251510
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular c... OMIM:235200
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Elevated circulati... ORPHA:264580
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Clitoral hypertrophy, Hypercholesterolemia, Ambiguous g... OMIM:610644
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Jaundice, Hep... OMIM:238600
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty ORPHA:254531
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Elevated ... ORPHA:79240
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia ORPHA:280679
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... ORPHA:69663
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Cholesterol gallston... ORPHA:209902
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Delayed puberty, Abnormality of the endocrine system ORPHA:633
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Premature ovarian insufficiency, Irregular menstruation, Hypoplas... OMIM:110100
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Microp... ORPHA:432
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia OMIM:300845
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... ORPHA:79239
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decre... OMIM:308700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Male ... ORPHA:2239
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Cryptorchidism, Hypercholesterolemia, Precocious puberty ORPHA:96184
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Spontaneous abortion, Hypercholesterolemia, Hypoalbuminemia, Inc... ORPHA:86816
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Infertility, Cholangiocarcinom... ORPHA:465508
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... ORPHA:77296
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly, Cirrhosis ORPHA:263501
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Micropenis, Male hypogonadism, Bilateral cryptorchidism OMIM:619471
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Azoospermia, Penoscrotal hypospadias, Ambiguous genitalia, female, Ambiguous genital... ORPHA:90791
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thy... ORPHA:90674
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland OMIM:182290
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Insulin-resistan... OMIM:151660
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Prolactinoma
Irregular menstruation, Amenorrhea, Hypogonadotropic hypogonadism, Abnormality of the menstrual c... ORPHA:2965
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Polycystic ovaries, Female infertility, Hypop... ORPHA:572333
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Menorrhagia, Hyperlipidemia, Increased hepatic glycogen conten... ORPHA:79259
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Splenomegaly, Hy... OMIM:300972
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Fused labia majora, Increased size of the clitoris, Abnormal external ... ORPHA:95699
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Precocious puberty, Delayed puberty ORPHA:819
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Hypothyroidism, Hypopituitarism ORPHA:90065
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Increased circulating free fatty acid level, Hypercholestero... ORPHA:2457
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Hepatic fibrosis, Vacuolated lympho... ORPHA:275761
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Carney Complex
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Sertoli ... ORPHA:1359
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the female genitalia, Abnormality of the male genitalia ORPHA:228123
Diphallia
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... ORPHA:227
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... OMIM:222300
Gaisböck Syndrome
Hyperproteinemia, Cholecystitis, Increased red blood cell count, Hyperuricemia, Hypercholesterole... ORPHA:90041
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Reduced sperm motility, Bicornuate uterus, Epididymal cyst, Hy... OMIM:137920
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Hyperuricemia, Hyperuricosuria OMIM:300322
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... ORPHA:3464
Tetrasomy 9P
Oligospermia, Infertility, Pachygyria, Micropenis, Polymicrogyria, Cryptorchidism, Lissencephaly ORPHA:3310
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Pulmonary carcinoid tumor, Hyper... ORPHA:363618
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Diabetes insipidus, Hypokalemia, Azoospermia, Hypophosphatemia, Anemia, Hypercholes... ORPHA:534
Alagille Syndrome 1
Hepatocellular carcinoma, Papillary thyroid carcinoma, Hypercholesterolemia, Cirrhosis, Hypertrig... OMIM:118450
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:99413
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Cryptorchidism, Elevated amnioti... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Diabetes insipidus, Hepatic fibrosis, Congenital hepatic fibrosis, Bile duct prolif... OMIM:619534
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Cystic Fibrosis
Hepatomegaly, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Male infertility, Steatorrhea, Exocrin... OMIM:219700
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Male infertility, Hypospadias OMIM:163950
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Polycystic ovaries, M... ORPHA:64

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 Brwd1

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 Brwd1.

No publications found that use IMPC mice or data for Brwd1.

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MGI Allele Allele Type Produced
Brwd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Brwd1em1(IMPC)Tcp Exon Deletion Mice, Tissue

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