Gene Summary

Name:
retbindin
Synonyms:
A330096I21Rik

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 retina morphology Rtbdntm1a(EUCOMM)Wtsi HOM Early adult 4.58×10-05
abnormal hair growth Rtbdntm1a(EUCOMM)Wtsi HOM   Early adult 4.06×10-05
increased lean body mass Rtbdntm1a(EUCOMM)Wtsi HET Early adult 4.07×10-05
thrombocytosis Rtbdntm1a(EUCOMM)Wtsi HOM Early adult 1.99×10-05
improved glucose tolerance Rtbdntm1a(EUCOMM)Wtsi HOM Early adult 5.73×10-05
increased body length Rtbdntm1a(EUCOMM)Wtsi HET Early adult 3.33×10-06
decreased circulating alanine transaminase level Rtbdntm1a(EUCOMM)Wtsi HET Early adult 1.51×10-06

Download data as:  TSV  XLS

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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
bone 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)
eye 0.0%
gall bladder 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%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 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)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

26 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

28 Images

X-ray

XRay Images Skull Lateral Orientation

25 Images

X-ray

XRay Images Forepaw

27 Images

Legacy Phenotype Associated Images

View all 253 images

Human diseases caused by Rtbdn 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 Rtbdn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Histiocytosis OMIM:209950
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Nail dystrophy, Anemia, Nailfold capillary tortuosity, Lymphopenia, P... OMIM:615934
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Poems Syndrome
Thrombocytosis, Hypertrichosis, Polycythemia, Papilledema, Diabetes mellitus, Leukonychia ORPHA:2905
Heme Oxygenase 1 Deficiency
Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia, Asplenia OMIM:614034
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Alopecia, Type I diabetes mellitus OMIM:212750
Trichohepatoenteric Syndrome 1
Fine hair, Thrombocytosis, Increased mean platelet volume, Brittle hair, Trichorrhexis nodosa, Cu... OMIM:222470
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Beta-Ketothiolase Deficiency
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis ORPHA:134
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Brittle hair, Hypoplasia of the thymus, Trichorrh... ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly... OMIM:615688
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis OMIM:226300
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia ORPHA:20
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... OMIM:256600
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet a... ORPHA:324636
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... ORPHA:352731
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Rod-cone dystrophy OMIM:212065
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Hepatocellular Carcinoma
Thrombocytosis, Type II diabetes mellitus, Hypoglycemia, Polycythemia, Anemia, Thrombocytopenia ORPHA:88673
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... ORPHA:320401
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Brucellosis
Thrombocytosis, Leukocytosis, Chorioretinitis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, T... ORPHA:1304
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Cerebellar atrophy, Optic disc pallor, Abnormality of visual evoked potentials, De... ORPHA:485421
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Nail dystrophy, Acute ... ORPHA:2968
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Diffuse cerebellar atrophy, Corpus callos... ORPHA:480898
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... OMIM:229300
Doors Syndrome
Optic atrophy, Thrombocytosis, Low anterior hairline, Malalignment of the great toenail, Abnormal... ORPHA:79500
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Hypochromic anemia OMIM:618213

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 Rtbdn

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 Rtbdn.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rtbdntm1a(EUCOMM)Wtsi Rtbdntm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rtbdntm1a(EUCOMM)Wtsi Rtbdntm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Rtbdntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rtbdntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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