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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

161 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lysosomal acid lipase activ... OMIM:278000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration 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, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Elevated circulating al... ORPHA:247598
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Jaundice, Hep... OMIM:238600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Cog4-Cdg
Fatal liver failure in infancy, Hypercholesterolemia, Cirrhosis, Hepatosplenomegaly, Elevated cir... ORPHA:263501
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Abnormal enzyme/coenzy... ORPHA:79237
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... ORPHA:79240
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Sitosterolemia 1
Elevated circulating sitosterol concentration, Splenomegaly, Hypercholesterolemia, Abnormality of... OMIM:210250
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypercholesterolemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Increased... ORPHA:528
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Hypercholesterolemia... OMIM:300972
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypocholesterolemia, Hepatic steatosis, Hypoalbuminemia, Elevated... OMIM:212065
Laron Syndrome
Hypercholesterolemia ORPHA:633
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Hepatic fibrosis, Fatal liver failu... ORPHA:275761
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Decreased LDL cholestero... ORPHA:14
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... ORPHA:96180
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, A... OMIM:151660
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis OMIM:619471
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neon... ORPHA:90674
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, C... ORPHA:90363
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hepatocellular carcinoma, Hepat... ORPHA:79259
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Elevated hepatic transaminase, Abnormal enzym... ORPHA:79324
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypercholesterolemia, Cirrhosis, Hypertr... OMIM:118450
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis, Incre... ORPHA:90041
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Hypertriglyceridemia ORPHA:363618
Biliary, Renal, Neurologic, And Skeletal Syndrome
Splenomegaly, Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevat... OMIM:619534
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Cholestatic liver disease, Elevated 7-dehydrocholesterol OMIM:270400
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fe... OMIM:309000
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Hypoammonemia ORPHA:534
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Hypercholesterolemia, Cholelithiasis ORPHA:273

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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