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Gene: Rdh1 MGI:1195275

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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 1 (all trans)
Synonyms:
N/A

Order Alleles

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 Rdh1 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 Rdh1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Nephroblastoma, Enlarge... OMIM:618272
Bardet-Biedl Syndrome 11
Obesity, Abnormality of the kidney OMIM:615988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... ORPHA:890
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Renal d... OMIM:615993
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Micropenis ORPHA:85274
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Hernia of the abdominal wall, Obesity ORPHA:3055
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bardet-Biedl Syndrome 5
Micropenis, Obesity OMIM:615983
Nephronophthisis 15
Elevated hepatic transaminase, Obesity, Nephronophthisis OMIM:614845
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Obesity, Cholestasis, Failure to thrive, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Obesity, Cholestasis, Failure to thrive, Childhood-onset truncal obesity ORPHA:71526
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Obesity And Hypopigmentation
Overgrowth, Hepatic steatosis, Obesity OMIM:620195
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Summitt Syndrome
Obesity OMIM:272350
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Bardet-Biedl Syndrome 4
Obesity, Renal cyst, Abnormality of the kidney OMIM:615982
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... ORPHA:251004
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Obesity OMIM:615985
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Multiple lipomas, Overgrowth, Nephroblastoma, Enlarged kidney ORPHA:276280
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, Renal hypoplasia, Hepatic steatosis, Hydronephrosis OMIM:615996
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... ORPHA:905
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Bardet-Biedl Syndrome 21
Overweight, Obesity, Horseshoe kidney, Elevated hepatic transaminase OMIM:617406
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic re... OMIM:200995
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney ORPHA:79128
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cor... OMIM:130650
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... OMIM:617303
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati... OMIM:608022
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Obesity, Displacement of t... ORPHA:2377
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... ORPHA:69663
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Blue Diaper Syndrome
Elevated hepatic transaminase, Nephrocalcinosis, Increased body weight, Blue urine ORPHA:94086
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia OMIM:600151
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr... OMIM:615630
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... OMIM:232200
Biemond Syndrome Type 2
Hypospadias, Obesity ORPHA:141333
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Obesity ORPHA:329249
Leptin Deficiency Or Dysfunction
Micropenis, Obesity OMIM:614962
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Large for gestational age ORPHA:293964
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... OMIM:194080
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, V... ORPHA:116
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestationa... OMIM:616026
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Increased bo... ORPHA:263455
H Syndrome
Lipodystrophy, Abnormality of the kidney, Hepatosplenomegaly, Hernia, Camptodactyly, Micropenis, ... ORPHA:168569
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Large for gestational age, Prop... ORPHA:500095
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... ORPHA:449395
Laurence-Moon Syndrome
Micropenis, Obesity OMIM:245800
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst OMIM:605231
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Increased hepa... ORPHA:79259
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Alg9-Cdg
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Peripor... ORPHA:79328
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Overgrowth OMIM:605309
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased body weight, Cholestasis, He... ORPHA:264580
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Hepatocellular adenoma... ORPHA:552
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Hepatosplenomegaly, Nephrot... ORPHA:505248
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Unilateral renal agenesis, Splenic cyst, Umbilical hernia, Enlarged kidney OMIM:618188
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Camptodactyly, ... OMIM:252500
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... ORPHA:508
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration OMIM:603233
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Abdominal obesity, Increased body weight OMIM:615954
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hydronephrosis OMIM:615989
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Birth length greater than 97th percentile, ... ORPHA:314588
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Obesity, Nephrotic syndrome, Hepatic fibrosis ORPHA:110
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kid... OMIM:306955
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Horseshoe kidney OMIM:300860
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased body weight, Hepatocellular ... ORPHA:79240
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Smith-Magenis Syndrome
Abnormality of the urinary system, Abnormal renal morphology, Increased body weight OMIM:182290
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Increased body weight, Nephrolithiasis, ... ORPHA:189427
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive OMIM:614520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Obesity, Enuresis nocturna, Truncal obesity, Failure to thriv... OMIM:615873
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... OMIM:608978
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Large for gestational age, Multiple pancreatic beta-cell adenomas, Diffuse pancreatic ... ORPHA:79644
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age, Ne... OMIM:267000
Ogden Syndrome
Global glomerulosclerosis, Inguinal hernia, Cardiomegaly, Microvesicular hepatic steatosis, Jaund... OMIM:300855
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Tall stature, Hypospadias, Congenital diaphragmatic hernia, Spleno... OMIM:312870
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia OMIM:619562
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Renal steatosis, Obesity, Hepatic steatosis ORPHA:412
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Insulinoma
Abnormality of the pancreatic islet cells, Increased body weight ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Sotos Syndrome
Abnormality of the kidney, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Tall s... OMIM:117550
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Enlarged kidney, Cardiomegaly OMIM:261740
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Inguinal hernia, Large for gestational age, Renal cyst, Overgrowth, Nephroblas... OMIM:617107
Retinitis Pigmentosa 74
Abnormal renal morphology, Obesity OMIM:616562
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Congenital diaphragmatic hernia, Hepatopulmonary fusio... OMIM:618280
Narcolepsy 7
Obesity OMIM:614250
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... ORPHA:1501
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries, Increased... ORPHA:2298
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Increased body weight, Hemoglobinuria, Acute kidney i... ORPHA:244242
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Micropenis, Failure to thrive ORPHA:398069
Cushing Disease
Increased urinary cortisol level, Dorsocervical fat pad, Increased body weight, Truncal obesity, ... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Pancreatoblas... ORPHA:99889
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Increased body weight, Abdominal obesity, Hepato... ORPHA:1359

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 Rdh1

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 Rdh1.

There are 19 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Retinoic Acid Deficiency Underlies the Etiology of Midfacial Defects. Journal of dental research (January 2022) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi 35001679
Synergistic role of retinoic acid signaling and Gata3 during primitive choanae formation. Human molecular genetics (November 2021) Rdh10tm1c(KOMP)Wtsi 34272563
Retinoic acid exerts sexually dimorphic effects on muscle energy metabolism and function. The Journal of biological chemistry (August 2021) Rdh10tm1d(KOMP)Wtsi PMC8441203
Branchiomeric Muscle Development Requires Proper Retinoic Acid Signaling. Frontiers in cell and developmental biology (July 2021) Rdh10tm1c(KOMP)Wtsi PMC8299418
Retinoic acid synthesis and autoregulation mediate zonal patterning of vestibular organs and inner ear morphogenesis. Development (Cambridge, England) (August 2020) Rdh10tm1c(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi 32665247
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rdh16tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rdh16tm1a(KOMP)Wtsi PMC6459510
RDH1 suppresses adiposity by promoting brown adipose adaptation to fasting and re-feeding. Cellular and molecular life sciences : CMLS (February 2019) Rdh10tm1d(KOMP)Wtsi 30788515
RDH10-mediated retinol metabolism and RARĪ±-mediated retinoic acid signaling are required for submandibular salivary gland initiation. Development (Cambridge, England) (August 2018) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi 29986869
Modest Decreases in Endogenous All-trans-Retinoic Acid Produced by a Mouse Rdh10 Heterozygote Provoke Major Abnormalities in Adipogenesis and Lipid Metabolism. Diabetes (January 2018) Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi 29321172
The role of retinol dehydrogenase 10 in the cone visual cycle. Scientific reports (May 2017) Rdh10tm1c(KOMP)Wtsi PMC5443843
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia. Human molecular genetics (April 2017) Rdh10tm1c(KOMP)Wtsi PMC5390677
Transcription factor TLX1 controls retinoic acid signaling to ensure spleen development. The Journal of clinical investigation (May 2016) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi PMC4922703
Conditional Ablation of Retinol Dehydrogenase 10 in the Retinal Pigmented Epithelium Causes Delayed Dark Adaption in Mice. The Journal of biological chemistry (September 2015) Rdh10tm1c(KOMP)Wtsi PMC4646373
Retinoic acid regulates embryonic development of mammalian submandibular salivary glands. Developmental biology (August 2015) Rdh10tm1a(KOMP)Wtsi PMC4641807
Wnt8a and Wnt3a cooperate in the axial stem cell niche to promote mammalian body axis extension. Developmental dynamics : an official publication of the American Association of Anatomists (April 2015) Rdh10tm1d(KOMP)Wtsi PMC4449298
Investigation of retinoic acid function during embryonic brain development using retinaldehyde-rescued Rdh10 knockout mice. Developmental dynamics : an official publication of the American Association of Anatomists (July 2013) Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi PMC3877746
Retinol dehydrogenase 10 is indispensible for spermatogenesis in juvenile males. Proceedings of the National Academy of Sciences of the United States of America (December 2012) Rdh10tm1c(KOMP)Wtsi PMC3545805
RDH10 oxidation of Vitamin A is a critical control step in synthesis of retinoic acid during mouse embryogenesis. PloS one (February 2012) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi PMC3271098

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MGI Allele Allele Type Produced
Rdh1tm45943(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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