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

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 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
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Overgrowth, Enlarge... OMIM:618272
Bardet-Biedl Syndrome 11
Obesity, Abnormality of the kidney OMIM:615988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Increased ... ORPHA:890
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Hypoplasia of penis ORPHA:3055
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Syndromic X-Linked Intellectual Disability 7
Micropenis, Obesity, Hypoplasia of penis ORPHA:85274
Bardet-Biedl Syndrome 16
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal d... OMIM:615993
Bardet-Biedl Syndrome 5
Micropenis, Obesity OMIM:615983
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71526
Nephronophthisis 15
Obesity, Nephronophthisis, Elevated circulating hepatic transaminase concentration OMIM:614845
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Bardet-Biedl Syndrome 4
Renal cyst, Obesity, Abnormality of the kidney OMIM:615982
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Membranoproliferative glomerulonephritis... ORPHA:251004
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Trisomy 5P
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Renal dysplasia OMIM:615985
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Elbow flexion contracture, Elevated circ... OMIM:608836
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Overgrowth, Multiple lipomas, Lipoatrophy, Enlarged kidney ORPHA:276280
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Failure to thrive, Ele... OMIM:276700
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Enlarged kidney ORPHA:79128
Bardet-Biedl Syndrome 21
Horseshoe kidney, Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi... OMIM:616629
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Omphalocele, Pancreatic fibrosis, Hepatomegaly, Enlarged ... OMIM:200995
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Inguinal hernia, Enlarged kidney, Cystic... OMIM:608022
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Omphalocele, Increased body mass index OMIM:614450
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Congenital hepatic fibrosis, Displacement of the urethral meatus, H... ORPHA:2377
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic... OMIM:617303
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration,... ORPHA:94086
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Biemond Syndrome Type 2
Obesity, Hypospadias ORPHA:141333
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Leptin Deficiency Or Dysfunction
Micropenis, Obesity OMIM:614962
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital diaph... OMIM:194080
Beckwith-Wiedemann Syndrome
Nephropathy, Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Viscero... ORPHA:116
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Glycosu... OMIM:616026
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, P... ORPHA:263455
H Syndrome
Hepatosplenomegaly, Hernia, Lipodystrophy, Micropenis, Abnormality of the kidney, Camptodactyly, ... ORPHA:168569
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Weight loss, Tubulo... ORPHA:449395
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pancreatic islet-cell hyperplasia ORPHA:276608
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Inguinal hernia, Nephrobla... ORPHA:500095
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large... ORPHA:552
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ... ORPHA:261222
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Laurence-Moon Syndrome
Micropenis, Obesity OMIM:245800
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Macrocephaly/Autism Syndrome
Obesity, Penile freckling, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Hepatic steatosis, Nephrolit... ORPHA:79259
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ... ORPHA:79328
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Umbilical hernia, Inguinal hernia, Splenomegaly, Cardiomegaly, Hepatomegaly, M... OMIM:252500
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pancreatic cy... ORPHA:464329
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Umbilical hernia, Splenic cyst, Inguinal hernia, Enlarged kidney OMIM:618188
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Leprechaunism
Nephrocalcinosis, Long penis, Failure to thrive, Reduced subcutaneous adipose tissue, Decreased b... ORPHA:508
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Hydronephrosis, Abdominal mass, Cystic renal dysplasia OMIM:615989
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Increased urinary cortisol level, Abdominal obesity OMIM:615954
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis, Horseshoe kidney OMIM:300860
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Birth length greater than 97th percentile, Larg... ORPHA:314588
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Failure to thrive, Polysplenia, Horseshoe kidney, Abdominal situs inversus, Bilia... OMIM:306955
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad OMIM:615830
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis... ORPHA:79240
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Failure to thrive, Umbilical hernia, Large for gestational age OMIM:614520
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Hepatic steatosis, Nephrolithiasis, Incr... ORPHA:189427
Smith-Magenis Syndrome
Increased body weight, Abnormal renal morphology, Abnormality of the urinary system OMIM:182290
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Obesity, Truncal obesit... OMIM:615873
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Enlarged kidney, Aplasia ... OMIM:608978
Perlman Syndrome
Visceromegaly, Renal hamartoma, Nephroblastomatosis, Nephrogenic rest, Ascites, Large for gestati... OMIM:267000
Ogden Syndrome
Umbilical hernia, Inguinal hernia, Microvesicular hepatic steatosis, Cardiomegaly, Global glomeru... OMIM:300855
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Umbilical hernia, Birth length greater than 97th percen... OMIM:312870
Dysbetalipoproteinemia
Obesity, Hepatic steatosis, Renal steatosis, Hepatomegaly, Acute pancreatitis ORPHA:412
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity OMIM:609734
Proteus Syndrome
Long penis, Abnormal dental enamel morphology, Splenomegaly, Abnormal subcutaneous fat tissue dis... ORPHA:744
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Abnormality of the kidney, Prolonged neonatal ja... OMIM:117550
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Thauvin-Robinet-Faivre Syndrome
Tall stature, Large for gestational age, Bifid ureter, Inguinal hernia, Nephroblastoma, Overgrowt... OMIM:617107
Retinitis Pigmentosa 74
Abnormal renal morphology, Obesity OMIM:616562
Cardiac-Urogenital Syndrome
Accessory spleen, Congenital diaphragmatic hernia, Hepatopulmonary fusion, Penoscrotal hypospadia... OMIM:618280
Adrenocortical Carcinoma
Increased body weight, Increased urinary cortisol level, Abnormality of urine homeostasis, Weight... ORPHA:1501
Insulin-Resistance Syndrome Type B
Nephritis, Biliary cirrhosis, Glycosuria, Abnormality of body weight, Decreased body weight, Incr... ORPHA:2298
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased body weig... ORPHA:244242
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Abdominal obesity, Micropenis, Flexion contracture 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, Increased bod... ORPHA:99889
Carney Complex
Tall stature, Dorsocervical fat pad, Increased body weight, Abdominal obesity, Neoplasm of the pa... 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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