Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
retinol binding protein 3, interstitial
Synonyms:
Irbp,  Rbp-3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rbp3 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.

The table below shows human diseases associated to Rbp3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Rbp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy, Ab... OMIM:616648
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Decreased nerve co... OMIM:256600
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked potentials, Depigme... ORPHA:352731
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Krabbe Disease
Decreased nerve conduction velocity, Diffuse cerebral atrophy, Neurodegeneration, Optic atrophy, ... OMIM:245200
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Abnormal... ORPHA:320401
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
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
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic disc pa... OMIM:601152
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Abnormality of visual evoked potentials OMIM:609304
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Abnormality of visual evoked potentials, Cor... OMIM:616875
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atrophy, Abnormalit... ORPHA:52368
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity,... ORPHA:485421
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Abnormal amplitude of flash visual ev... ORPHA:168491
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Cerebral cortical atrophy, Optic atrophy ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy, Optic atrophy... ORPHA:480898
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Abnormal autonomic nervous syst... OMIM:231550
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Abnormality of visual evoked pot... OMIM:229300
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Abnormality of visual evoked potentials, Abnormal autonomic nervous system ph... ORPHA:35069
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Cere... ORPHA:2510
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Abnormality of vis... ORPHA:228360
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309263
Infantile Krabbe Disease
Cherry red spot of the macula, Abnormality of visual evoked potentials, Decreased nerve conductio... ORPHA:206436
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic dysfunction, Op... ORPHA:309271
White-Sutton Syndrome
Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atrophy, Abnormality of visual evoked potent... OMIM:616364
Mogs-Cdg
Absent brainstem auditory responses, Optic atrophy, Abnormality of visual evoked potentials ORPHA:79330
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cerebellar atrophy, Global brain atrophy, Optic n... ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Neuronal loss in central nervous system, Cerebellar atrophy, Abnormality of visual evoked potenti... OMIM:203700
Cockayne Syndrome A
Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Decreased nerve co... OMIM:216400
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Cockayne Syndrome B
Cerebral atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, A... OMIM:133540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Facial palsy, Abnormality of visual evoked potentials ORPHA:258
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667

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 Rbp3

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 Rbp3.

No publications found that use IMPC mice or data for Rbp3.

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MGI Allele Allele Type Produced
Rbp3tm413821(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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