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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
abnormal skin morphology Brd9em1(IMPC)Tcp HET Early adult 0.00
increased neutrophil cell number Brd9em1(IMPC)Tcp HET Early adult 2.87×10-07
increased circulating HDL cholesterol level Brd9em1(IMPC)Tcp HET   Early adult 8.51×10-05
small uterus Brd9em1(IMPC)Tcp HET Late adult 0.00
small adrenal glands Brd9em1(IMPC)Tcp HET Late adult 0.00
decreased bone mineral content Brd9em1(IMPC)Tcp HET Late adult 4.85×10-05
preweaning lethality, complete penetrance Brd9em1(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Brd9em1(IMPC)Tcp HET Late adult 0.00
abnormal seminal vesicle morphology Brd9em1(IMPC)Tcp HET Late 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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

174 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

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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Eye Morphology

Images Slit Lamp

20 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 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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Immunophenotyping

Panel A FCS file(s)

3 Images

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Histopathology

Images

1 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
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hor... OMIM:614837
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Ovarian Dysgenesis 5
Decreased serum estradiol, Hypoplasia of the uterus, Elevated circulating luteinizing hormone lev... OMIM:617690
Ovarian Dysgenesis 2
Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Estrogen Resistance Syndrome
Osteopenia, Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Delaye... ORPHA:785
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Estrogen Resistance
Osteopenia, Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap... OMIM:615363
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... OMIM:612310
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Breast hypoplasia, Delayed puberty, Hypoplasia of the uterus, Male hypogonadism, Abse... ORPHA:432
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Hypospadias, Abnormal vas de... ORPHA:755
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, Decreased serum testosterone con... OMIM:278850
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon... ORPHA:90796
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Osteoporosis, Decreased serum estradiol, Increased ci... OMIM:615300
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Osteoporo... OMIM:219080
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Incre... OMIM:615830
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Osteoporosis, Increas... OMIM:615954
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia OMIM:306000
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Hy... ORPHA:90797
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... OMIM:154230
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Satoyoshi Syndrome
Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand OMIM:600705
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, A... ORPHA:289548
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal ... ORPHA:247768
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus OMIM:614851
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, A... ORPHA:168558
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:251274
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Woodhouse-Sakati Syndrome
Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:3464
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi... ORPHA:786
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Meckel Syndrome 12
Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia OMIM:616258
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Unilateral renal agenesis, Pancreatic hypoplas... OMIM:137920
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodeficiency 32B
Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco... ORPHA:231580
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Nephrolithiasis, Prim... ORPHA:189427
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoplasia of the fallopian tube,... OMIM:241080
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism ORPHA:369929
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Ne... OMIM:146255
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Hypoplasia of... OMIM:601186
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
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Elevated circulating follicle... OMIM:618419
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:79237
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Urethral atresia, A... OMIM:273395
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... ORPHA:90794
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... ORPHA:3109
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Decreased circulating progesterone, Lacrimal gland hypoplasia, Hypergonad... ORPHA:572333
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis OMIM:236680
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis ORPHA:90065
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Pancreatic endocrine tumor, Pheochromocytoma, Neoplasm of the t... ORPHA:99889
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Cushing Disease
Osteoporosis, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased circulating AC... ORPHA:96253
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Abnormal erythrocyte enzyme concentration or activity, Elevated cir... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, H... ORPHA:79240
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis, Elevated circulating C-... OMIM:617099
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon... ORPHA:275761
Peters Plus Syndrome
Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Anterior hypopituitarism, Clitor... ORPHA:709
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive protein concent... ORPHA:829
Immunodeficiency 47
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Leukopenia, Sple... OMIM:300972
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Hypercholesterolemia ORPHA:69663
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, H... OMIM:261540
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... OMIM:614527
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Increased urine alpha-ketoglutara... ORPHA:79500
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Hy... ORPHA:79259
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Leukocytosis,... OMIM:620565
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:612852
Meckel Syndrome 14
Decreased calvarial ossification, Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney d... OMIM:619879
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype... ORPHA:186
Sweet Syndrome
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... ORPHA:3243
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Limb-Mammary Syndrome
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... ORPHA:69085
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hyperaldosteronism, Hyperc... ORPHA:534
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Aplasia of the uterus, Micropenis, Unilateral renal agenesis OMIM:614083
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Aplasia of the uterus, Vesicoureteral reflux, Hepatosplenomegaly, Pancreati... OMIM:274000
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Cryptorchidism, Uterine ... OMIM:130050
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Decrease... OMIM:276820
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Wolf-Hirschhorn Syndrome
Abnormal sternal ossification, Hypospadias, Aplasia of the uterus, Precocious puberty, Cryptorchi... OMIM:194190
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the uterus, Renal hypo... OMIM:135900
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Hydronephrosis, Splenomegaly, Ureteropelvic junction obstruct... ORPHA:2729
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul... OMIM:619534
Loeys-Dietz Syndrome
Craniosynostosis, Uterine rupture ORPHA:60030
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Renovascular hypertension, Bladder diverticulum, ... ORPHA:286
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Norrie Disease
Delayed puberty, Diabetes mellitus, Uterine rupture, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal cyst, S... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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