Gene Summary

Name:
RAB27B, member RAS oncogene family
Synonyms:
2310021G14Rik,  B130064M09Rik

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 sleep behavior Rab27btm1b(KOMP)Wtsi HOM   Early adult 1.72×10-06

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Epididymis N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

10 Images

Adult LacZ

LacZ Images Section

31 Images

Sleep Wake

Wake state (bmp file)

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

3 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Rab27b 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 Rab27b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Thrombocytopenia 9
Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal platelet aggregation OMIM:620478
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... OMIM:619267
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... OMIM:614009
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:615888
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Glanzmann Thrombasthenia 1
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... OMIM:273800
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto... OMIM:231200
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:277480
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Prolonged bleeding time OMIM:614076
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Prolonged bleeding time, Impaired ADP-induced p... OMIM:614074
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Prolonged bleeding time, Neutropenia ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia ORPHA:903
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Sple... OMIM:608233
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Prolonged bleeding ... ORPHA:182050
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Prolong... ORPHA:3318
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia ORPHA:1059
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Thrombocytopenia 2
Leukocytosis, Abnormal platelet shape, Thrombocytopenia, Abnormal platelet volume OMIM:188000
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le... ORPHA:79329
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Narcolepsy 3
Narcolepsy OMIM:609039
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Ch├ędiak-Higashi Syndrome
Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopenia, Abnormal natura... ORPHA:167
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 7
Narcolepsy OMIM:614250
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosi... ORPHA:2968
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Hyperaldosteronism OMIM:241200
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Abnormal platelet function, Reduced circulating p... ORPHA:79443
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal platelet function, Abnormality of the spleen ORPHA:648
Hemophilia B
Prolonged bleeding time ORPHA:98879
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
African Trypanosomiasis
Narcolepsy ORPHA:3385

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 Rab27b

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 Rab27b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Rab27btm1b(KOMP)Wtsi PMC5503261

Order Mouse and ES Cells

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
Rab27btm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Rab27btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rab27btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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