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 1.55×10-06

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

31 Images

Sleep Wake

Wake state (bmp file)

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... OMIM:619267
Platelet Disorder, Undefined
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... OMIM:273800
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Prolonged bleeding time, Abnormal alpha g... OMIM:601399
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... OMIM:231200
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:605249
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Von Willebrand Disease, Type 3
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Reduced natural killer cell activity, Impa... OMIM:619374
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Hermansky-Pudlak Syndrome 6
Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614075
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
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:155100
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Prolonged bleeding time OMIM:188025
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Prolonged bleeding time, Giant platelets, Thrombocytopenia ORPHA:238459
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:153640
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Narcolepsy 7
Narcolepsy OMIM:614250
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate... OMIM:608233
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge... ORPHA:3318
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Prolonged bleeding time, Giant plate... ORPHA:182050
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia ORPHA:1059
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Prolonged bleeding time OMIM:187900
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Prolonged bleeding time OMIM:614074
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Ch├ędiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Bone marrow hypocellul... ORPHA:2968
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Hyperaldosteronism OMIM:241200
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Abnormal platelet function, Elevated calcitonin, ... ORPHA:79443
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function ORPHA:648
Hemophilia B
Prolonged bleeding time ORPHA:98879
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
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

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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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