Gene Summary

Name:
transmembrane protein 8B
Synonyms:
4930500O05Rik

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
abnormal ovary morphology Tmem8bem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Tmem8bem1(IMPC)Tcp HET Early adult 0.00
enlarged stomach Tmem8bem1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Tmem8bem1(IMPC)Tcp HET Early adult 0.00
abnormal seminal vesicle morphology Tmem8bem1(IMPC)Tcp HOM Early adult 0.00
decreased body length Tmem8bem1(IMPC)Tcp HET Early adult 1.03×10-05
increased basophil cell number Tmem8bem1(IMPC)Tcp HET Early adult 1.63×10-05
decreased prepulse inhibition Tmem8bem1(IMPC)Tcp HET   Early adult 9.43×10-05
abnormal eye morphology Tmem8bem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Gross Pathology and Tissue Collection

Images

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

33 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

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, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... 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
Adenomatous colonic polyposis, Ovarian neoplasm, Prostate cancer, Neoplasm of the large intestine... ORPHA:157798
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma OMIM:114500
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Satoyoshi Syndrome
Abnormality of femur morphology, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormal hip ... ORPHA:3130
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology, Hypogonadism ORPHA:281090
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst, Ureterovesical stenosis, Short digit OMIM:268650
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the urethra, Urinary retention, Polycystic ovaries, Abnormality of the ov... ORPHA:2795
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... ORPHA:543
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix OMIM:613490
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Ovarian Fibrothecoma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Fraser-Like Syndrome
Ovarian cyst, Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Femoral bowing, Radioulnar synostosis, Ambiguous genitalia, Bowing o... ORPHA:95699
Bardet-Biedl Syndrome 1
Micropenis, Postaxial polydactyly, Left ventricular hypertrophy, Brachydactyly, Syndactyly, Posta... OMIM:209900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Bicornuate uterus, Intestinal malrotation, Splenogonadal fusion, Microga... OMIM:156810
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia, Urethrovesical occlusion OMIM:226730
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Hypoplasminogenemia
Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Gastric varix ORPHA:64743
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... ORPHA:2538
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... ORPHA:512
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Abnormal external genitalia, Sho... ORPHA:3404
Craniorachischisis
Bifid sternum ORPHA:63260
Turner Syndrome
Splayed toes, Short toe, Short sternum, Enlargement of the distal femoral epiphysis, Hip dysplasi... ORPHA:881
Mosaic Monosomy X
Splayed toes, Short toe, Short sternum, Enlargement of the distal femoral epiphysis, Hip dysplasi... ORPHA:99228
Monosomy X
Splayed toes, Short toe, Short sternum, Enlargement of the distal femoral epiphysis, Hip dysplasi... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Splayed toes, Short toe, Short sternum, Enlargement of the distal femoral epiphysis, Hip dysplasi... ORPHA:99413
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Uterine prolapse, Hyperextensibility of the finger joints, Tapered ... OMIM:303600
Hardikar Syndrome
Hematemesis, Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal va... OMIM:301068
Viss Syndrome
High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Intes... 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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