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Gene: Bmerb1 MGI:1914504

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Gene Summary

Name:
bMERB domain containing 1
Synonyms:
2900011O08Rik,  MINP

Order Alleles

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 urinary bladder morphology Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00
dilated aorta Bmerb1em1(IMPC)Ccpcz HOM   Early adult 7.24×10-05
abnormal auditory brainstem response Bmerb1em1(IMPC)Ccpcz HOM   Early adult 4.74×10-05
enlarged adrenal glands Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal salivary gland morphology Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal adrenal gland morphology Bmerb1em1(IMPC)Ccpcz HOM 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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Bmerb1 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 Bmerb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Intr... ORPHA:404
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Hypercalciuria, Intracranial hemorrhag... ORPHA:251274
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Brooke-Spiegler Syndrome
Hearing impairment, Abnormality of the submandibular glands, Salivary gland neoplasm, Facial pals... ORPHA:79493
Variant Abeta2M Amyloidosis
Chronic kidney disease, Abnormal vascular morphology, Abnormal autonomic nervous system physiolog... ORPHA:314652
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Bifid uvula, Ascending tubular aorta aneurysm, Arterial tortuosity OMIM:132800
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Tinnitus, Gl... ORPHA:231580
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Tinnitus, Abnormal circulating renin, I... ORPHA:369929
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele te... ORPHA:96181
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus, Cryptorchidism ORPHA:261102
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular schwannoma, Intestinal polyposis, Abnormality of th... ORPHA:252164
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, High palate OMIM:616166
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Hearing impairment ORPHA:1705
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology ORPHA:31
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... OMIM:202010
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ... OMIM:617168
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Elevated circulating luteinizing hormone level, Abnormal earlobe morphology, Narrow... ORPHA:95699
Phace Association
Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Lingual thyroid, Coarctation of aort... OMIM:606519
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Cleft lip, Adrenal gland agenesis, Pulmonary artery stenosis, Hypospadias, Cleft pa... OMIM:611812
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Temtamy Syndrome
Low-set ears, Aortic aneurysm, Abnormal palate morphology, Thick lower lip vermilion ORPHA:1777
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In... ORPHA:449400
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Adrenal hyperplasia... ORPHA:79500
Rin2 Syndrome
Abnormal lip morphology, Long philtrum, Gingival overgrowth, Irregular dentition, Cryptorchidism,... ORPHA:217335
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Abnormali... ORPHA:1166
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, High pala... OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long philtrum, Thin upper lip vermilion, Optic disc pallor, ... OMIM:617523
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Al Amyloidosis
Macroglossia, Xerostomia, Postural hypotension with compensatory tachycardia, Renal insufficiency... ORPHA:85443
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, High, narrow palate, Aortic root aneurysm, Mucoid extracellul... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 12
High palate, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta aneurysm OMIM:619825
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... OMIM:614823
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Macs Syndrome
Eclabion, Dilation of Virchow-Robin spaces, Long philtrum, Recurrent aphthous stomatitis, Gingiva... OMIM:613075
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
Periventricular Nodular Heterotopia
Aortic aneurysm, Patent ductus arteriosus, Pyloric stenosis ORPHA:98892
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Temtamy Syndrome
Low-set ears, Dental crowding, Long philtrum, Aortic aneurysm, Hypoplasia of teeth, Lop ear OMIM:218340
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Ureterocele, Hearing impairment, Cryptorchidism, Absence of Stensen du... OMIM:604292
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Decreased nerve conduction velocity, Thin upper lip vermilion, Persistent left sup... ORPHA:477817
Congenital Contractural Arachnodactyly
Crumpled ear, Intestinal malrotation, Aortic aneurysm, Tracheoesophageal fistula, Abnormally fold... ORPHA:115
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Xerostomia, Cryptorchidism, Sensorineural hearing impairment, Patent... ORPHA:2363
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Optic nerve compre... ORPHA:79078
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Carious teeth, Downturned corners of mouth, Alveolar ridge overgrowth, Aortic aneurysm, Urinary i... OMIM:620070
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Insulin-resistant diabetes mellitus, Abnormal circulating leptin concentra... ORPHA:2298
Monosomy 18Q
Secondary growth hormone deficiency, Bilateral conductive hearing impairment, Downturned corners ... ORPHA:1600
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Dental crowding, Long philtrum, Cryptorchidism, Smoo... OMIM:130720
Fragile X Syndrome
Otitis media, Protruding ear, Macroorchidism, Chronic otitis media, Macrotia, Ascending tubular a... ORPHA:908
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Anal atresia, Re... OMIM:129900
Igg4-Related Kidney Disease
Chronic kidney disease, Thyroiditis, Acute kidney injury, Arteritis, Urinary bladder inflammation... ORPHA:449395
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Abnormal aortic morphology, Coarctation of aorta, Hypothyroidis... ORPHA:1923
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Intr... ORPHA:99889
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Intestinal malrotation, Dextrotransposition of the great arteries, Solitary median ... OMIM:619657
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Cleft soft palate, Narrow ... OMIM:154500
Chromosome 18Q Deletion Syndrome
Optic atrophy, Bifid uvula, Conductive hearing impairment, Atresia of the external auditory canal... OMIM:601808
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Diabetic Embryopathy
Hearing impairment, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Abnormal aortic morph... ORPHA:1926
Giant Cell Arteritis
Optic atrophy, Vasculitis, Conductive hearing impairment, Hearing impairment, Aortic dissection, ... ORPHA:397
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Abnormal large intestine morphology, Arteriovenous malformation, Long philtrum, Th... ORPHA:109
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Irregular dentition, Sensorineural hearing impairment, Optic... OMIM:619260
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Dental crowding, Open mouth, Thin upper lip vermilion, Short philtrum, Deep philtru... OMIM:309520
Loeys-Dietz Syndrome 6
Bifid uvula, Vertebral artery aneurysm, Broad uvula, Arterial tortuosity, Dilatation of the cereb... OMIM:619656
Arthrogryposis, Distal, Type 2A
Whistling appearance, Abnormal auditory evoked potentials, Dental crowding, Hearing impairment, P... OMIM:193700
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Long philtrum, Hypogonadism, Cry... ORPHA:2990
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Premature adrenarche, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cry... OMIM:620450
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ... OMIM:614816
Blau Syndrome
Nephropathy, Xerostomia, Abnormal salivary gland morphology, Large vessel vasculitis, Stage 5 chr... ORPHA:90340
7Q11.23 Microduplication Syndrome
Hearing impairment, Abnormal earlobe morphology, Short lingual frenulum, Cryptorchidism, Abnormal... ORPHA:96121
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Stage 5 chronic kidney disease, Renal insufficienc... ORPHA:63
Melioidosis
Abnormal parotid gland morphology, Parotitis ORPHA:31202
Takayasu Arteritis
Vasculitis, Arterial stenosis, Vascular dilatation, Ascending tubular aorta aneurysm ORPHA:3287
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic dissection, Arterial stenosis, Esophagitis, Median cleft palate, Hia... ORPHA:3342
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Abnormality of the dentition, Hearing impairment, Widely spaced... ORPHA:90321
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Abnormal helix morphology, Hearing impairment, Downturned corners of mouth, Furrowed... ORPHA:453499
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Dilatat... ORPHA:730
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, High, narrow palate, Abnormal venous morphology, Aortic dissection, Abnormal... ORPHA:1900
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm,... OMIM:610168
Tetraamelia Syndrome 1
Low-set ears, Cleft upper lip, Adrenal gland agenesis, Urethral atresia, Anal atresia, Cleft palate OMIM:273395
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Truncus arteriosus... ORPHA:261330
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Str... OMIM:175050
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Narrow palate, Conductive hearing impairment, Dental malocclusion, Cryptorchidism, ... OMIM:182212
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Anuria, Megacystis, Ileal atresia, Pyelonephritis, Sensorineural hearing impairment, ... OMIM:619351
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Abnormal lip morphology, EEG with burst suppre... ORPHA:171929
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Aortic aneurysm, Otosclerosis, Hearing impairment OMIM:166200
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Colon cancer, Sialadenitis, Orchitis, Abnormality of the... ORPHA:449563
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Open mouth, Cryptorchidism, Everted lower lip vermili... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Open mouth, Cryptorchidism, Everted lower lip vermili... ORPHA:363958
Fryns Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Anal atresia, High palate, Hypospadias, Non-midline... ORPHA:2059
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Open mouth, Cryptorchidism, Protruding ear, Short philtrum OMIM:301039
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Long philtrum, Decreased nerve conduction velocity, Thi... OMIM:616652
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal salivary gland morphology, Hypercalciuria, Enlarged... OMIM:181000
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot,... OMIM:600460
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Hypothyroidism, Absent brainstem auditory respon... ORPHA:79330
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Orofac... ORPHA:60030
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Carious teeth, Dental malocclusion, Hypogonad... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Premature coronary artery ath... ORPHA:909
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Cupped ear, Hearing impairment, Lacrimal gland hypoplasia, Xerostomia, Aplasia of ... OMIM:149730
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal... OMIM:617602
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Narrow mouth, Cryptorchidism, A... ORPHA:286
Hydrolethalus Syndrome 1
Low-set ears, Hydronephrosis, Adrenal gland dysgenesis, Median cleft upper lip, Hypospadias, Abno... OMIM:236680
Cerebellar-Facial-Dental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philt... ORPHA:444072
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Dentinogenesis imperfecta, Carious teeth, Aortic root aneurysm, Long philtrum, Thor... ORPHA:536467
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Abnormal aortic morphology, Bilateral cleft palate, Bifid tongue, Patent ... ORPHA:2001
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... ORPHA:206436
Zimmermann-Laband Syndrome 1
Low-set ears, Long penis, Aortic root aneurysm, Hearing impairment, Downturned corners of mouth, ... OMIM:135500
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Loeys-Dietz Syndrome 3
Bifid uvula, Dental malocclusion, Aortic dissection, Arterial tortuosity, Tortuous cerebral arter... OMIM:613795
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena... ORPHA:805
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Fontaine Progeroid Syndrome
Low-set ears, High, narrow palate, Absent nipple, Conductive hearing impairment, Long philtrum, A... OMIM:612289
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Marfan Syndrome
Arterial dissection, High, narrow palate, Aortic root aneurysm, Aortic dissection, Pulmonary arte... ORPHA:558
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hearing impairment, Ankyloglossia, Hematuria, Hypsarrhythmia, Bilateral sensorineural hearing imp... OMIM:619475
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glycosuria, Abdominal aortic aneurysm, Elevated c... OMIM:617253
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Pulmonary artery atresia, Ureteral ste... OMIM:270100
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Subdural hemorrhage, High palate... ORPHA:536545
Larsen Syndrome
Conductive hearing impairment, Hearing impairment, Cleft upper lip, Cryptorchidism, Hypodontia, A... OMIM:150250
Adult Krabbe Disease
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Epidermal Nevus Syndrome
Aortic aneurysm, Polycystic kidney dysplasia ORPHA:35125
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of th... OMIM:300989
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Peripheral pulmonary artery stenosis, Vascular tortuosity, Ascending tubula... OMIM:219100
Opitz Gbbb Syndrome
Low-set ears, Aortic root aneurysm, Hearing impairment, Natal tooth, Ankyloglossia, Cryptorchidis... ORPHA:2745
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten... ORPHA:99027
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Ile... OMIM:609136
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Carious teeth, Dental malocclusion, Decreased... OMIM:133540
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Cerebral cavernous malformation, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Neurofibroma
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal cranial nerve... ORPHA:252183
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Atherosclerosis, Dark urine, Black pigment gal... ORPHA:56
Koolen-De Vries Syndrome
Narrow palate, Aortic root aneurysm, Cleft upper lip, Widely spaced teeth, Vesicoureteral reflux,... OMIM:610443
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Dental crowding,... OMIM:620654
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Neuroendocrine neoplasm, Cryptorchidism, Deep philtrum, Widely-spaced maxil... ORPHA:404443
Osteogenesis Imperfecta
Arterial dissection, Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Aort... ORPHA:666
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft... OMIM:619472
Teebi Hypertelorism Syndrome 1
Natal tooth, Aortic root aneurysm, Long philtrum, Dental crowding, Thin upper lip vermilion, Hydr... OMIM:145420
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Long philt... OMIM:617506
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Autosomal Dominant Cutis Laxa
Low-set ears, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Small bowel divert... ORPHA:90348
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Arterial tortuosity, Di... ORPHA:284984
Arterial Tortuosity Syndrome
Bifid uvula, Aortic root aneurysm, Long philtrum, Generalized arterial tortuosity, Ischemic strok... OMIM:208050
Cap Myopathy
High palate, Facial palsy, Aortic root aneurysm ORPHA:171881
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Oligosacchariduria, Hearing impairment, Dilatation of the cerebral artery, Transient ... ORPHA:365
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Abnormality of the dentition, Hearing impairment, Optic disc coloboma, Long philtru... ORPHA:536471
Fixed Subaortic Stenosis
Coarctation of aorta, Patent ductus arteriosus, Ascending tubular aorta aneurysm ORPHA:3092
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Cryptorchidism, Carotid artery stenosis, Prominent superficial veins, High ... OMIM:618000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... ORPHA:99050
Mend Syndrome
Low-set ears, Asymmetry of the mouth, Abnormal auditory evoked potentials, Cryptorchidism, High p... ORPHA:401973
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Pulmonary artery aneurysm, Cleft lip, Hearing impairment, Mild hearing impairment, ... OMIM:616462
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... ORPHA:138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Aortic root aneurysm, Large fleshy ears, Narrow mouth, Anal atresia, High palate, Patent ductus a... ORPHA:280633
Aicardi-Goutières Syndrome
Low-set ears, Moyamoya phenomenon, Calcification of the aorta, Aortic aneurysm, Hypothyroidism, M... ORPHA:51
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascu... OMIM:614437
Classical-Like Ehlers-Danlos Syndrome Type 2
Tooth malposition, Narrow palate, Aortic root aneurysm, Periodontitis, Prominent veins on trunk, ... ORPHA:536532
Ectopia Lentis 1, Isolated, Autosomal Dominant
High palate, Aortic root aneurysm OMIM:129600
Neonatal Marfan Syndrome
Low-set ears, High, narrow palate, Crumpled ear, Aortic root aneurysm, Decreased testicular size,... ORPHA:284979
Au-Kline Syndrome
Chronic kidney disease, Bifid uvula, Aortic root aneurysm, Downturned corners of mouth, Dental ma... OMIM:616580
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Intestinal polyposis... ORPHA:144
Loeys-Dietz Syndrome 1
Low-set ears, Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Bifid uvula, Aortic ... OMIM:609192
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Ascending tubular aorta aneurysm OMIM:620067
Phace Syndrome
Ectopic thyroid, Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, ... ORPHA:42775
Restrictive Dermopathy
Low-set ears, Microcolon, Natal tooth, Narrow mouth, Submucous cleft hard palate, Congenital adre... ORPHA:1662
Immunodeficiency 23
Conductive hearing impairment, Aortic root aneurysm, Sensorineural hearing impairment, Membranopr... OMIM:615816
Williams Syndrome
Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Sensorineural hearing impair... ORPHA:904
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Bifid uvula, Long philtrum, Widely spaced teeth, Thick lower lip vermilion, Sensori... OMIM:612474
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Recurrent otitis media, Hypothyroidism, Hyperthyroidism, Diabetes mellitus,... ORPHA:449291
Sarcoidosis
Nephrocalcinosis, Enlarged lacrimal glands, Diabetes insipidus, Parotitis, Renal insufficiency, E... ORPHA:797
Ehlers-Danlos Syndrome, Classic Type, 1
Irregularly spaced teeth, Bowel diverticulosis, Aortic root aneurysm, Lop ear OMIM:130000
Marfanoid Habitus With Situs Inversus
Persistent left superior vena cava, Aortic root aneurysm OMIM:609008
Loeys-Dietz Syndrome 5
Bifid uvula, Aortic root aneurysm, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, ... OMIM:615582
Sotos Syndrome
Hearing impairment, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Chronic otitis media, ... ORPHA:821
Cockayne Syndrome Type 3
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Hydroureter, ... ORPHA:90324
1P36 Deletion Syndrome
Narrow mouth, Cryptorchidism, Sensorineural hearing impairment, Abnormal intestine morphology, Hy... ORPHA:1606
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cupped ear, Hearing impairment, Conductive hearing impairment, Aortic root aneurysm, Horseshoe ki... ORPHA:444077
Kawasaki Disease
Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve... ORPHA:2331
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, High, narrow palate, Aortic root aneurysm, Dental crowding, Decreased nerve ... ORPHA:285
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... ORPHA:402075
Cutis Laxa, Autosomal Recessive, Type Iid
Low-set ears, Bilateral cryptorchidism, Protruding ear, Micropenis, Macrotia, Ascending tubular a... OMIM:617403
Kikuchi-Fujimoto Disease
Vasculitis, Enlargement of parotid gland, Oral ulcer, Vasculitis in the skin ORPHA:50918
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Oral ulcer, Colitis, Ascending tubular aorta aneurysm, Congenital hydrocele, Small ves... OMIM:620376
Contractural Arachnodactyly, Congenital
Crumpled ear, Aortic root aneurysm, Patent ductus arteriosus, High palate OMIM:121050
Marfan Syndrome
Narrow palate, Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Dental crowd... OMIM:154700
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99413
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:881
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99226
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, High palate, Aortic root aneurysm, Severe conductive hearing impairment ORPHA:230851
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Type II diabetes mellitus, Submucous cleft hard palate, Chordee, Delayed pu... OMIM:618891
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneury... OMIM:620025
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the pulmonary artery, Coronar... ORPHA:363618
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Aortic root aneurysm, Long philtrum, Narrow mouth, Microdontia, Prominent antitragu... OMIM:245600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm, Long upper lip, Cleft palate OMIM:615349
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Cryptorchidism, Sensorineural hearing imp... OMIM:607872
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, High palate, Aortic root aneurysm OMIM:616914
X Small Rings
Protruding ear, Aortic root aneurysm, Long philtrum, Thin upper lip vermilion ORPHA:96201
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Patent ductus arteriosus, Abnormal coronary artery morpholog... ORPHA:99094
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Dilatation of the cerebral artery, Hiatus hernia, Blad... ORPHA:287

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 Bmerb1

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 Bmerb1.

No publications found that use IMPC mice or data for Bmerb1.

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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
Bmerb1em1(IMPC)Ccpcz Indel Mice
Bmerb1tm378600(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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