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Gene: Tmem8b MGI:2441680

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Gene Summary

Name:
transmembrane protein 8B
Synonyms:
4930500O05Rik

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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 eye morphology Tmem8bem1(IMPC)Tcp HOM Early adult 0.00
decreased body length Tmem8bem1(IMPC)Tcp HET Early adult 1.39×10-05
abnormal seminal vesicle morphology Tmem8bem1(IMPC)Tcp HOM Early adult 0.00
increased basophil cell number Tmem8bem1(IMPC)Tcp HET Early adult 1.63×10-05
enlarged stomach Tmem8bem1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Tmem8bem1(IMPC)Tcp HET Early adult 0.00
decreased prepulse inhibition Tmem8bem1(IMPC)Tcp HET Early adult 4.53×10-06
abnormal sternum morphology Tmem8bem1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Tmem8bem1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

128 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

33 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

21 Images

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Human diseases caused by Tmem8b 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 Tmem8b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc... ORPHA:157798
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Testicular seminoma, Cryptorchidism, Abnormal stomach morphology ORPHA:281090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna... ORPHA:2138
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma ORPHA:314478
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Fraser-Like Syndrome
Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Brachydactyly ORPHA:247768
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Abnormal fema... ORPHA:95699
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Abnormality of the ovary, Decreased testi... OMIM:209900
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... OMIM:620076
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl... ORPHA:512
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Abnormal forearm bo... ORPHA:3404
Craniorachischisis
Bifid sternum ORPHA:63260
Turner Syndrome
Enlargement of the distal femoral epiphysis, Short toe, Horseshoe kidney, Short 5th metacarpal, A... ORPHA:881
Mosaic Monosomy X
Enlargement of the distal femoral epiphysis, Short toe, Horseshoe kidney, Short 5th metacarpal, A... ORPHA:99228
Monosomy X
Enlargement of the distal femoral epiphysis, Short toe, Horseshoe kidney, Short 5th metacarpal, A... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Enlargement of the distal femoral epiphysis, Short toe, Horseshoe kidney, Short 5th metacarpal, A... ORPHA:99413
Coffin-Lowry Syndrome
Bifid sternum, Uterine prolapse, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing,... OMIM:303600
Hardikar Syndrome
Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Unilateral cleft palate, Gastr... OMIM:301068
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472

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 Tmem8b

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 Tmem8b.

No publications found that use IMPC mice or data for Tmem8b.

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MGI Allele Allele Type Produced
Tmem8bem1(IMPC)Tcp Inter-exon deletion Mice
Tmem8btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tmem8btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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