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Gene: Rdh5 MGI:1201412

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
retinol dehydrogenase 5
Synonyms:
cRDH

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Rdh5 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 Rdh5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fundus Albipunctatus
OMIM:136880
Retinitis Punctata Albescens
ORPHA:52427

The table below shows human diseases predicted to be associated to Rdh5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 5
Abnormality of pattern visual evoked potentials OMIM:610708
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Canavan Disease
Abnormality of visual evoked potentials ORPHA:141
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials ORPHA:1933
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials ORPHA:2971
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials OMIM:256600
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Mepan Syndrome
Abnormality of visual evoked potentials ORPHA:508093
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials ORPHA:168491
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials OMIM:601152
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials OMIM:616875
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials ORPHA:52368
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials ORPHA:702
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials ORPHA:35069
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials OMIM:125310
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials ORPHA:480898
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials ORPHA:485421
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
White-Sutton Syndrome
Abnormality of visual evoked potentials OMIM:616364
Micro Syndrome
Abnormality of visual evoked potentials ORPHA:2510
Infantile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206436
Friedreich Ataxia
Abnormality of visual evoked potentials OMIM:229300
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials ORPHA:309263
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials ORPHA:309271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials ORPHA:79430
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials ORPHA:909
Cockayne Syndrome B
Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials OMIM:216400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials ORPHA:667
Retinitis Punctata Albescens
ORPHA:52427
Fundus Albipunctatus
OMIM:136880

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 Rdh5

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 Rdh5.

No publications found that use IMPC mice or data for Rdh5.

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
Rdh5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rdh5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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