Gene Summary

Name:
transmembrane protein 88B
Synonyms:
A230069A22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Tmem88bem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Tmem88bem1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Tmem88bem1(IMPC)Mbp HOM Early adult 7.43×10-05
abnormal spleen morphology Tmem88bem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Tmem88bem1(IMPC)Mbp 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.

Phenotype associated images not available

Human diseases caused by Tmem88b 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 Tmem88b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Marburg Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Menometrorrhagia, Thr... ORPHA:99826
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Abnormal ly... ORPHA:464329
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Leu... ORPHA:340
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomegaly... OMIM:235200
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Cholelithiasis, Testicular atrophy, First degree atrioventri... OMIM:160900
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage OMIM:133780
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Arrhythmia, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, E... ORPHA:465508
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Thromboc... ORPHA:509
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema, Leukemia, Pineoblastoma ORPHA:790
Vitreoretinochoroidopathy
Retinal neovascularization, Vitreous hemorrhage OMIM:193220
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal ... ORPHA:86839
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Normocytic anemia, H... ORPHA:33226
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Retinoblastoma
Vitreous hemorrhage, Leukemia, Pinealoma OMIM:180200
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Micronodular cirrhosis, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal hemorrh... OMIM:192315
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Hypothyroidism, Bruisin... ORPHA:758
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Hyphema, Bifid scrotum, Chordee, Micropenis, Septate vagina, Pu... ORPHA:261552
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Gastrointestinal hemorrhage OMIM:177850
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy OMIM:300322
Incontinentia Pigmenti
Breast hypoplasia, Leukocytosis, Breast aplasia, Hypoplastic nipples, Supernumerary nipple, Retin... OMIM:308300
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Granulomatosis OMIM:608710
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hyper... ORPHA:464
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Steinert Myotonic Dystrophy
Male hypogonadism, Cardiac conduction abnormality, Ovarian carcinoma, Hypergonadotropic hypogonad... ORPHA:273
Cockayne Syndrome Type 3
Subdural hemorrhage, Hepatomegaly, Increased blood pressure, Splenomegaly, Retinal hemorrhage, Ca... ORPHA:90324
Cockayne Syndrome
Cryptorchidism, Hypertension, Absence of pubertal development, Hepatomegaly, Delayed puberty, Spl... ORPHA:191
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia, Normocytic anemia ORPHA:91500
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Trichinellosis
Retinal hemorrhage ORPHA:863
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Adrenal calcification, Recurrent spontaneous abortion, Hyp... ORPHA:51608

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 Tmem88b

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 Tmem88b.

No publications found that use IMPC mice or data for Tmem88b.

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MGI Allele Allele Type Produced
Tmem88btm257927(L1L2_Bact_P) Targeting vectors
Tmem88bem1(IMPC)Mbp Whole-gene deletion Mice
Tmem88btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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