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Gene: Brd9 MGI:2145317

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Gene Summary

Name:
bromodomain containing 9
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small uterus Brd9em1(IMPC)Tcp HET Late adult 0.00
increased neutrophil cell number Brd9em1(IMPC)Tcp HET Early adult 2.82×10-07
decreased bone mineral content Brd9em1(IMPC)Tcp HET Late adult 4.85×10-05
cataract Brd9em1(IMPC)Tcp HET Late adult 6.47×10-05
preweaning lethality, complete penetrance Brd9em1(IMPC)Tcp HOM   Early adult 0.00
abnormal seminal vesicle morphology Brd9em1(IMPC)Tcp HET Late adult 0.00
enlarged urinary bladder Brd9em1(IMPC)Tcp HET Late adult 0.00
small adrenal glands Brd9em1(IMPC)Tcp HET Late adult 0.00
abnormal skin morphology Brd9em1(IMPC)Tcp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

174 Images

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Histopathology

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16 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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XRay Images Whole Body Dorso Ventral

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Gross Pathology and Tissue Collection

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10 Images

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Gross Pathology and Tissue Collection

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8 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Eye Morphology

Images Slit Lamp

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E12.5

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4 Images

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Human diseases caused by Brd9 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 Brd9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... OMIM:614837
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus OMIM:618117
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Ovarian Dysgenesis 6
Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased testicular size, Decreased serum testosterone concentration,... OMIM:614841
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Male hypogon... ORPHA:168563
Cataract 42
Cataract, Developmental cataract OMIM:115900
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... OMIM:612964
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Ovarian Dysgenesis 9
Decreased serum estradiol, Hypoplasia of the ovary, Delayed puberty, Elevated circulating luteini... OMIM:619665
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Primary adrenal in... ORPHA:3453
Hypergonadotropic Hypogonadism-Cataract Syndrome
Absence of secondary sex characteristics, Increased circulating gonadotropin level, Cataract, Del... ORPHA:2410
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... OMIM:202010
Estrogen Resistance Syndrome
Hyperinsulinemia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Absence of second... ORPHA:785
Ovarian Dysgenesis 2
Delayed puberty, Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Scrotal hypospadias, Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogeste... OMIM:201810
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... OMIM:273250
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism ORPHA:1875
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Adrenal hyperplasia OMIM:201910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia OMIM:202110
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased cirrculating a... OMIM:619203
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Perrault Syndrome 3
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele... OMIM:614129
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus OMIM:617442
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Azoospe... ORPHA:432
Premature Ovarian Failure 6
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:612310
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Primary gonadal insufficienc... ORPHA:755
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Hypoplasia of the uterus, Primary gonadal insufficienc... ORPHA:90796
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Increased circulating gonadotropin level, Hypoplasi... OMIM:615300
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus OMIM:601076
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortis... OMIM:615830
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Wagr Syndrome
Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Cryptorchidism, Displacement of th... ORPHA:893
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism, Renal in... ORPHA:2377
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Bilateral cryptorchidism, Aplasia ... ORPHA:99429
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cataract, Hypogonadism, Cryptorchidism ORPHA:363741
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Hypoplasia of penis, Cataract, Decreased calvarial ossification, Cryptorchidism ORPHA:2772
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Cataract, Hepatomegaly, Cryptorchidism OMIM:613730
46,Xy Sex Reversal 4
Hydronephrosis, Sex reversal, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstruc... OMIM:154230
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Increased serum estradiol, Ambiguous genitalia, Abnormal circulating es... ORPHA:90797
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Adrenal hype... ORPHA:251274
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Vaginal neoplasm, Uterine leiomyosarcoma ORPHA:523
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Hypopla... ORPHA:247768
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Polyuria, Hypercalciuria OMIM:613677
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Hypoplasia of the uterus OMIM:600705
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus OMIM:614851
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:289548
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Clitoral hypertrophy, Congenital adrenal hy... ORPHA:96181
Meckel Syndrome 12
Ureteral hypoplasia, Antecubital pterygium, Vaginal atresia, Renal hypoplasia, Hypoplasia of the ... OMIM:616258
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:168558
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hypogonadism, Cryptorchidism OMIM:601794
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Hypoplastic labia majora, Popliteal pterygium, Cryptorch... OMIM:119500
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Iris coloboma, Peters anomaly, Cataract, Hypospadias, Ovotestis, Hypoplasia... OMIM:309801
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Epiphyseal stippling, Hypogonadism OMIM:302950
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, G... OMIM:137920
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus OMIM:617914
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible p... ORPHA:369929
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis, Sex reversal, Ovotestis OMIM:611812
Tetraamelia Syndrome 1
Urethral atresia, Adrenal gland agenesis, Absent external genitalia, Vaginal atresia, Cataract, H... OMIM:273395
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Diabet... OMIM:241080
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Decreased circulating renin level, Glucocortocoid-insensitive primar... ORPHA:231580
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Cataract, Decreased circulating parathyroid hormone level, Hypoparathyroidism OMIM:146200
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Microcornea OMIM:110100
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Hyperostosis, Polycyst... ORPHA:2969
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Hematuria, Cataract, Abnormal morphology of female internal genitalia ORPHA:1839
Lumbar Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypospadias,... ORPHA:83628
Microphthalmia, Syndromic 9
Hydronephrosis, Bicornuate uterus, Horseshoe kidney, Pelvic kidney, Cryptorchidism, Renal hypopla... OMIM:601186
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Low urinary cyclic AMP response to PTH administration, Elevated circulating thyro... OMIM:612462
Acromesomelic Dysplasia 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:609441
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Hematuria, Distal renal tubular acidosis, Proximal renal tubular acidosis, Se... OMIM:146255
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Microphthalmia With Brain And Digit Anomalies
Microcornea, Iris coloboma, Cataract, Cryptorchidism, Abnormality of the hypothalamus-pituitary a... ORPHA:139471
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Familial Isolated Hypoparathyroidism
Nephropathy, Cataract, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:2238
Proximal Myotonic Myopathy
Cataract ORPHA:606
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Cataract, Osteoporosis OMIM:601811
Microphthalmia, Syndromic 5
Microcornea, Ectopic posterior pituitary, Cataract, Cryptorchidism, Micropenis OMIM:610125
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Microcornea, Vaginal atresia, Iris coloboma, Cataract, Cryptorchidi... ORPHA:3301
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Keratoconjunctiviti... OMIM:240300
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Unilateral renal agenesis, Clitoral hypoplasia, Elevated circulating lu... OMIM:618419
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, A... ORPHA:2237
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Nephrotic syndrome, Stage 5 chronic kidney disease, Anterior lenticonus, Hematur... OMIM:203780
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... ORPHA:3226
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Dent Disease
Thin bony cortex, Aminoaciduria, Non-acidotic proximal tubulopathy, Hyperphosphaturia, Sparse bon... ORPHA:1652
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Peters Plus Syndrome
Multicystic kidney dysplasia, Anterior hypopituitarism, Anterior chamber synechiae, Clitoral hypo... ORPHA:709
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... ORPHA:3109
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased circulating progesterone, Decreased serum estradiol, Lacrimal gland aplasia, Polycystic... ORPHA:572333
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology OMIM:236680
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... OMIM:258040
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Peters-Plus Syndrome
Bilobate gallbladder, Hypoplasia of the vagina, Hypoplastic labia majora, Clitoral hypoplasia, Ir... OMIM:261540
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... ORPHA:99889
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Brain abscess, Neutrophilia ORPHA:54251
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... ORPHA:96253
Doors Syndrome
Sagittal craniosynostosis, Ambiguous genitalia, Increased urine alpha-ketoglutarate concentration... ORPHA:79500
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Type II diabetes mellitus, Primar... OMIM:269200
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Unilateral rena... OMIM:614527
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Absent penis, Bifid scrotum, Peno... ORPHA:322
Meckel Syndrome 14
Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous genitalia, Decreased calvarial ossi... OMIM:619879
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... OMIM:271520
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Craniosynostosis, Supernumerary nipple ORPHA:1521
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Norrie Disease
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Uterine rupture, E... ORPHA:649
Limb-Mammary Syndrome
Aplasia of the ovary, Absent nipple, Breast aplasia, Chronic irritative conjunctivitis, Aplasia o... ORPHA:69085
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilateral cryptorchidism, A... OMIM:618280
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Cervical insufficiency, Ute... OMIM:130050
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Aplasia of the uterus, Unilateral renal agenesis OMIM:614083
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Wolf-Hirschhorn Syndrome
Rieger anomaly, Precocious puberty, Aplasia of the uterus, Iris coloboma, Hypospadias, Abnormal s... OMIM:194190
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Hypothyroidism, Multicystic kidney dysplasia, Urethral valve, Bifid scrotu... OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Decreased calvarial ossificat... OMIM:276820
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Pterygium, Cryptorchidism OMIM:256520
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Uterine rupture, Bladder diverticulum, Osteolysis, Hypospadias, Renova... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture, Craniosynostosis ORPHA:60030

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 Brd9

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 Brd9.

No publications found that use IMPC mice or data for Brd9.

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MGI Allele Allele Type Produced
Brd9em1(IMPC)Tcp Exon Deletion Mice, Tissue
Brd9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Brd9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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