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Gene: Bmerb1 MGI:1914504

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Gene Summary

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

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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 adrenal gland morphology Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal auditory brainstem response Bmerb1em1(IMPC)Ccpcz HOM   Early adult 7.58×10-05
enlarged adrenal glands Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal salivary gland morphology Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal urinary bladder morphology Bmerb1em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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 Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body 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
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias, Renal salt wasting 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
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Brooke-Spiegler Syndrome
Facial palsy, Salivary gland neoplasm, Abnormality of the sublingual glands, Abnormality of the s... ORPHA:79493
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Abnormal autonomic ner... ORPHA:314652
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, Dexamethaso... ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased circulating dehy... OMIM:201810
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital a... ORPHA:96181
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased circulating andr... ORPHA:90791
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Decreased circulating aldosteron... OMIM:202010
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Benign Schwannoma
Intestinal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwanno... ORPHA:252164
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the thyroid gland, Xerostomia, Enlarged lacrimal glands, Abno... ORPHA:449432
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel... ORPHA:79500
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Cleft lip, Cleft palate, Low-set ears, Adrenal gland agenesis OMIM:611812
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Al Amyloidosis
Renal insufficiency, Proteinuria, Xerostomia, Macroglossia, Nephrotic syndrome, Albuminuria, Abno... ORPHA:85443
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, High palate, Lo... OMIM:617523
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Tubulointerstiti... ORPHA:79078
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Abnormal circulating leptin concentra... ORPHA:2298
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Conductive hearing impairment, Vesicoureteral reflux, Microdontia, A... ORPHA:2363
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Muir-Torre Syndrome
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland mor... OMIM:154500
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular dentition, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearin... OMIM:619260
Arthrogryposis, Distal, Type 2A
Pursed lips, Dental crowding, Abnormal auditory evoked potentials, Hearing impairment, Cryptorchi... OMIM:193700
Melioidosis
Abnormal parotid gland morphology, Parotitis ORPHA:31202
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Tetraamelia Syndrome 1
Cleft upper lip, Cleft palate, Urethral atresia, Low-set ears, Adrenal gland agenesis, Anal atresia OMIM:273395
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Delayed eruption of primar... ORPHA:90321
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Abnormality of the anterior pitui... ORPHA:449395
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchitis, Abnormalit... ORPHA:449563
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Enlarged lacrimal glands, Hypercalciuria, Inflammation of the large intestine, ... OMIM:181000
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of ... OMIM:149730
Hydrolethalus Syndrome 1
Median cleft lip, Hypospadias, Abnormal pinna morphology, Cleft palate, Adrenal gland dysgenesis,... OMIM:236680
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Urinary incontinence... ORPHA:101085
Blau Syndrome
Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Nephropathy, Abnormal salivary gland mo... ORPHA:90340
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Delayed eruption of primary teeth, A... OMIM:216400
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... ORPHA:252183
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Delayed eruption of primary teeth, A... OMIM:133540
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Mend Syndrome
Abnormal auditory evoked potentials, Asymmetry of the mouth, Cryptorchidism, Cleft palate, High p... ORPHA:401973
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Facial palsy, Enlarged lacrimal glands,... ORPHA:797
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Oral ulcer ORPHA:50918

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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