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Gene: Retsat MGI:1914692

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Gene Summary

Name:
retinol saturase (all trans retinol 13,14 reductase)
Synonyms:
0610039N19Rik

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IMPC Data Collections

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.

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Viewing: all phenotypes
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  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

142 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Retsat 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 Retsat by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration ORPHA:209902
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration ORPHA:352641
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Pancreatic Triacylglycerol Lipase Deficiency
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:309031
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Maternal Uniparental Disomy Of Chromosome 4
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Low l... ORPHA:96180
Imerslund-Grasbeck Syndrome 1
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration OMIM:261100
Formiminoglutamic Aciduria
Increased blood folate concentration, Abnormality of folate metabolism ORPHA:51208
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Abetalipoproteinemia
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:14
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Decreased circulating calcifediol concentration OMIM:619073
Shwachman-Diamond Syndrome
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:811
Primary Sclerosing Cholangitis
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:171
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Autosomal Recessive Polycystic Kidney Disease
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:731
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12, Vitamin B12 deficiency OMIM:261000
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:619481
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Epidermal Nevus Syndrome
Lipoma, Low levels of vitamin D ORPHA:35125
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Primary Intestinal Lymphangiectasia
Low levels of vitamin D, Abnormality of vitamin metabolism ORPHA:90362
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Inguinal hernia, Decreased adenosylcobalamin, Decreased methylcobalamin OMIM:614857
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol ORPHA:2788
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Flexion contracture, Abnormal vitamin B12 level ORPHA:544503
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Reduced blood folate concentration, Low levels of vitamin D, Low levels o... OMIM:212750
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Low serum calcitriol, Enamel hypoplasia, Decreased circulating calcifediol concentration OMIM:264700
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Low levels of vitamin K, Knee flexion contracture OMIM:118650
Bile Acid Synthesis Defect, Congenital, 4
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration OMIM:214950
Deafness-Hypogonadism Syndrome
Low levels of vitamin B1 ORPHA:90646
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Decreased methylcobalamin OMIM:236270
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, High serum calcitriol OMIM:211900
Classic Galactosemia
Low levels of vitamin D ORPHA:79239
Folate Malabsorption, Hereditary
Reduced blood folate concentration OMIM:229050
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methylcobalamin OMIM:250940
Lead Poisoning
Low levels of vitamin D, Abnormality of vitamin D metabolism ORPHA:330015
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
High serum calcitriol OMIM:600785
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:613839
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Vitamin B12 deficiency, Lipodystrophy OMIM:618922
Bone Marrow Failure Syndrome 3
Decreased circulating vitamin E concentration, Low levels of vitamin D, Hernia, Enamel hypoplasia... OMIM:617052
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, High serum calcitriol OMIM:277440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
High serum calcitriol, High serum calcifediol OMIM:241530
Congenital Disorder Of Glycosylation, Type Iit
Low levels of vitamin D, Abnormal protein O-linked glycosylation OMIM:618885
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D ORPHA:89937
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Hypobetalipoproteinemia, Familial, 1
Decreased circulating vitamin E concentration OMIM:615558
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration OMIM:600081
Autosomal Recessive Hypophosphatemic Rickets
Low serum calcitriol, Abnormality of vitamin D metabolism, Enthesitis ORPHA:289176
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Flexion contracture, Atrophic scars, Abnormality of vitamin metabolism, L... ORPHA:79408
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism ORPHA:541423
Fanconi Renotubular Syndrome 2
High serum calcitriol OMIM:613388
Hypocalcemic Vitamin D-Dependent Rickets
Low serum calcitriol, Enamel hypoplasia ORPHA:289157
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin OMIM:277410
Hereditary Hypophosphatemic Rickets With Hypercalciuria
High serum calcitriol ORPHA:157215
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Low levels of vitamin D, Flexion contracture ORPHA:89842
Congenital Bile Acid Synthesis Defect Type 2
Decreased circulating vitamin E concentration ORPHA:79303
Imerslund-Gräsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol OMIM:617994
Dietary Iron Overload Disease
Low levels of vitamin C ORPHA:139507
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased methylcobalamin OMIM:617780
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Abnormal vitamin B12 level, Decreased adenosylcobalamin OMIM:251100
Hypophosphatemic Rickets, X-Linked Recessive
High serum calcitriol OMIM:300554
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Reduced blood folate concentration OMIM:301056
Dent Disease 1
High serum calcitriol OMIM:300009
Methylmalonic Acidemia With Homocystinuria Type Cblf
Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin ORPHA:79284
Ataxia With Vitamin E Deficiency
Decreased circulating vitamin E concentration OMIM:277460
Mucopolysaccharidosis Type 3
Low levels of vitamin D, Umbilical hernia, Inguinal hernia, Flexion contracture ORPHA:581
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency OMIM:601775
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism ORPHA:411629
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin OMIM:277380
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism ORPHA:309854
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Low levels of vitamin D, Scarring, Increased connective tissue ORPHA:79277
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Decreased adenosylcobalamin OMIM:251110
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Abnormal dental enamel morphology, Atypical scarring of skin, Umbilical hernia, ... ORPHA:534
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Autosomal Dominant Cutis Laxa
Inguinal hernia, Low levels of vitamin D, Hernia ORPHA:90348
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Low levels of vitamin D OMIM:613658
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin OMIM:277400
Dent Disease
High serum calcitriol ORPHA:1652
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level, Panniculitis ORPHA:3261
Multiple Myeloma
Abnormality of vitamin B12 metabolism ORPHA:29073
Juvenile Nephropathic Cystinosis
Low levels of vitamin D ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D ORPHA:79259
Liver Disease, Severe Congenital
Low levels of vitamin D, Umbilical hernia, Inguinal hernia, Decreased circulating vitamin E conce... OMIM:619991
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Low levels of vitamin D ORPHA:438213
Adrenomyeloneuropathy
Vitamin B12 deficiency ORPHA:139399
Pearson Syndrome
Malabsorption of Vitamin B12 ORPHA:699
Degcags Syndrome
Reduced blood folate concentration, Hiatus hernia OMIM:619488
Acute Transverse Myelitis
Vitamin B12 deficiency ORPHA:139417

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 Retsat

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 Retsat.

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

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
Retsattm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Retsattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Retsattm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Retsattm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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