Gene Summary

Name:
urotensin 2
Synonyms:
prepro-UII,  Ucn2,  urotensin II precursor

IMPC Data Collections

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.

Select physiological systems to view:
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
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images homozygote Ambiguous
Brainstem  Wholemount images homozygote Ambiguous
Cecum  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images homozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images homozygote Ambiguous
Duodenum  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images homozygote Ambiguous
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images homozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images homozygote Ambiguous
Kidney  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images homozygote Ambiguous
Large intestine  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images homozygote Ambiguous
Liver  Wholemount images heterozygote 0.0% (0 of 4)
Liver  Wholemount images homozygote Ambiguous
Lung  Wholemount images heterozygote Ambiguous
Lung  Wholemount images homozygote Ambiguous
Lymph node  Wholemount images heterozygote Not available
Lymph node  Wholemount images homozygote Ambiguous
Main olfactory bulb  Wholemount images heterozygote 0.0% (0 of 4)
Main olfactory bulb  Wholemount images homozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote Not available
Oviduct  Wholemount images homozygote Not available
Parotid gland  Wholemount images heterozygote Ambiguous
Parotid gland  Wholemount images homozygote Ambiguous
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Skin  Wholemount images heterozygote 0.0% (0 of 4)
Skin  Wholemount images homozygote 0.0% (0 of 2)
Spinal cord  Wholemount images heterozygote Ambiguous
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images homozygote Ambiguous
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Sublingual gland  Wholemount images homozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images homozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 0.0% (0 of 4)
Thymus  Wholemount images homozygote 0.0% (0 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Uterus  Wholemount images homozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Adrenal gland N/A homozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 4)
Aorta N/A homozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A homozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A homozygote 0.0% (0 of 2)
Colon N/A heterozygote Ambiguous
Colon N/A homozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Diaphragm N/A homozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 4)
Esophagus N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Heart N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A homozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A homozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A homozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A homozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 4)
Pancreas N/A homozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A homozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 4)
Penis N/A homozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A homozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A homozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A homozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A homozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Ambiguous
Small intestine N/A homozygote Ambiguous
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 4)
Striatum N/A homozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 4)
Thalamus N/A homozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 4)
Tongue N/A homozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 4)
Trachea N/A homozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A homozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 4)
Vagina N/A homozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
Vascular system N/A homozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A homozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Ear N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Forearm N/A heterozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Upper arm N/A heterozygote 0.0% (0 of 3)
Upper leg N/A heterozygote 0.0% (0 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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 Wholemount

161 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

6 Images

Human diseases caused by Uts2 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 Uts2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Elevated circulating apolipoprotein B concentration, Increased LDL cholesterol co... OMIM:144250
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Splenomegal... OMIM:607765
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... ORPHA:247598
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:370
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:263501
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Chylomicron Retention Disease
Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipid d... ORPHA:71
Galactokinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatosplenomegaly, Increased level of galactito... ORPHA:79237
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:264580
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:79240
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Sitosterolemia 1
Splenomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating sit... OMIM:210250
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Congenital Generalized Lipodystrophy
Hepatomegaly, Increased C-peptide level, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, H... ORPHA:528
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh... OMIM:300972
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Laron Syndrome
Hypercholesterolemia ORPHA:633
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Elevated circulating alkaline phospha... ORPHA:275761
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,... ORPHA:14
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Hepatic fa... ORPHA:470
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Hepatic fibrosis, ... OMIM:212065
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Pancreatitis, Hypercholesterolemia OMIM:619471
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ... OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulat... ORPHA:90674
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormal enzyme/coenzyme activity, Increased hepatic ... ORPHA:79259
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Cirrhosis, Decreased... ORPHA:90363
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Alg12-Cdg
Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbumi... ORPHA:79324
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failure, Cirrhosis, Hepat... OMIM:118450
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia ORPHA:363618
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:248370
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha... OMIM:619534
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, ... OMIM:270400
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Steinert Myotonic Dystrophy
Cholelithiasis, Elevated hepatic transaminase, Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Recurrent pancreatitis, Hypercholesterolemia OMIM:606721

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 Uts2

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 Uts2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Urotensin II Induces Mice Skeletal Muscle Atrophy Associated with Enhanced Autophagy and Inhibited Irisin Precursor (Fibronectin Type III Domain Containing 5) Expression in Chronic Renal Failure. Kidney & blood pressure research (June 2019) Uts2rtm1(KOMP)Vlcg 31238319

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Uts2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Uts2tm119006(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Uts2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Uts2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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