Gene Summary

Name:
oxytocin receptor
Synonyms:
OTR

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating LDL cholesterol level Oxtrtm1.1(KOMP)Vlcg HOM   Early adult 1.70×10-05

Download data as:  TSV  XLS

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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 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)
Bone N/A heterozygote 0.0% (0 of 4)
Bone N/A homozygote Ambiguous
Brain N/A heterozygote 100% (4 of 4)
Brain N/A homozygote 100% (2 of 2)
Brainstem N/A heterozygote Ambiguous
Brainstem N/A homozygote Ambiguous
Brown adipose tissue N/A heterozygote Ambiguous
Brown adipose tissue N/A homozygote Ambiguous
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cecum N/A heterozygote Ambiguous
Cecum N/A homozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A homozygote Ambiguous
Cerebral cortex N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A homozygote 100% (2 of 2)
Chest bone N/A heterozygote Ambiguous
Chest bone N/A homozygote Ambiguous
Colon N/A heterozygote Ambiguous
Colon N/A homozygote 100% (2 of 2)
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)
Duodenum N/A heterozygote 100% (4 of 4)
Duodenum N/A homozygote 100% (2 of 2)
Epididymis N/A heterozygote Not available
Epididymis N/A homozygote Not available
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)
Gall bladder N/A heterozygote Ambiguous
Gall bladder N/A homozygote Ambiguous
Gonadal fat pad N/A heterozygote 50% (2 of 4)
Gonadal fat pad N/A homozygote 50% (1 of 2)
Harderian gland N/A heterozygote Ambiguous
Harderian gland N/A homozygote Ambiguous
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 100% (4 of 4)
Hippocampus N/A homozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 50% (2 of 4)
Hypothalamus N/A homozygote 100% (2 of 2)
Ileum N/A heterozygote 100% (4 of 4)
Ileum N/A homozygote 100% (2 of 2)
Jejunum N/A heterozygote 100% (4 of 4)
Jejunum N/A homozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (4 of 4)
Kidney N/A homozygote 100% (2 of 2)
Large intestine N/A heterozygote Ambiguous
Large intestine N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 4)
Liver N/A homozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Lung N/A homozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 4)
Lymph node N/A homozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 100% (4 of 4)
Main olfactory bulb N/A homozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (2 of 4)
Mammary gland N/A homozygote 50% (1 of 2)
Mesenteric adipose tissue N/A heterozygote 50% (2 of 4)
Mesenteric adipose tissue N/A homozygote 100% (2 of 2)
Mesenteric lymph node N/A heterozygote Ambiguous
Mesenteric lymph node 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 100% (4 of 4)
Olfactory lobe N/A homozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Ovary N/A homozygote Not available
Oviduct N/A heterozygote Not available
Oviduct N/A homozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 4)
Pancreas N/A homozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote Ambiguous
Parathyroid gland N/A homozygote Ambiguous
Parotid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A homozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 4)
Penis N/A homozygote Not available
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 50% (2 of 4)
Pituitary gland N/A homozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Prostate gland N/A homozygote Not available
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)
Skin N/A heterozygote 100% (4 of 4)
Skin N/A homozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (4 of 4)
Small intestine N/A homozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (4 of 4)
Spinal cord N/A homozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 4)
Spleen 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)
Stomach N/A heterozygote Ambiguous
Stomach N/A homozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (4 of 4)
Striatum N/A homozygote 100% (2 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A homozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A homozygote Ambiguous
Testis N/A heterozygote Not available
Testis N/A homozygote Not available
Thalamus N/A heterozygote 0.0% (0 of 4)
Thalamus N/A homozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 4)
Thymus N/A homozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Thyroid gland N/A homozygote Ambiguous
Tongue N/A heterozygote 100% (4 of 4)
Tongue N/A homozygote 100% (2 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)
Urinary bladder N/A heterozygote Ambiguous
Urinary bladder N/A homozygote Ambiguous
Uterus N/A heterozygote 50% (2 of 4)
Uterus N/A homozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (2 of 4)
Vagina N/A homozygote 50% (1 of 2)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote Ambiguous
Vascular system N/A homozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
Vesicular gland N/A homozygote Not available
White adipose tissue N/A heterozygote 50% (2 of 4)
White adipose tissue N/A homozygote 50% (1 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 7)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 7)
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote 100% (7 of 7)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 7)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 7)
Footplate N/A homozygote 0.0% (0 of 3)
Forearm N/A heterozygote 0.0% (0 of 7)
Forearm N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 7)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 85.71% (6 of 7)
Forelimb N/A homozygote 100% (3 of 3)
Handplate N/A heterozygote 0.0% (0 of 7)
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote 14.29% (1 of 7)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote 0.0% (0 of 7)
Heart N/A homozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 7)
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 7)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 7)
Liver N/A homozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 0.0% (0 of 7)
Lower leg N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 7)
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 7)
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 7)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 7)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 7)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 100% (7 of 7)
Tail N/A homozygote 100% (3 of 3)
Upper arm N/A heterozygote 85.71% (6 of 7)
Upper arm N/A homozygote 100% (3 of 3)
Upper leg N/A heterozygote 0.0% (0 of 7)
Upper leg N/A homozygote 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 0.0%
aorta 0.0%
bone 0.0%
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
cranium
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%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 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%
thalamus 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%

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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous

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

518 Images

Embryo LacZ

LacZ images wholemount

106 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Oxtr 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 Oxtr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Autism
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk OMIM:617820
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608049
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hsd10 Disease
Gait disturbance, Ataxia, Dysphagia, Abnormal social behavior, Choreoathetosis ORPHA:391417
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia OMIM:619738
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Abnormal social behavior, Agitation, Ataxia ORPHA:1020
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Reduced socia... ORPHA:163976
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,... OMIM:615157
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Wagro Syndrome
Emotional lability, Reduced social reciprocity, Low frustration tolerance, Polyphagia, Aggressive... OMIM:612469
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
47,Xyy Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Increased ci... ORPHA:8
Young-Onset Parkinson Disease
Depression, Gait imbalance, Restless legs, Agitation, Reduced social reciprocity, Impulsivity ORPHA:2828
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Emotional lability, Abnormal social behavior ORPHA:309263
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Emotional lability, Progressive gait ataxia, Abnormal social beha... ORPHA:309271
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Laron Syndrome
Hypercholesterolemia ORPHA:633
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Ataxia, Unsteady gait, Abnormal social behavior, Nonprogressive c... ORPHA:314647
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Broad-based gait, Abnormal social behavior, Compulsive ... ORPHA:93932
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Re... ORPHA:177907
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mend Syndrome
Aggressive behavior, Abnormal social behavior, Hyperactivity ORPHA:401973
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Niemann-Pick Disease Type C
Depression, Low frustration tolerance, Disinhibition, Progressive gait ataxia, Aggressive behavio... ORPHA:646
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Inappropriate laughter, Primary adrenal in... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Inappropriate laughter, Primary adrenal in... ORPHA:363958
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Williams Syndrome
Depression, Gait imbalance, Dysmetria, Overfriendliness, Attention deficit hyperactivity disorder... ORPHA:904
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Oxtr

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 Oxtr.

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

Title Journal IMPC Allele PubMed ID
Oxytocin receptor ligand binding in embryonic tissue and postnatal brain development of the C57BL/6J mouse. Frontiers in behavioral neuroscience (December 2013) Oxtrtm1(KOMP)Vlcg PMC3858721

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Oxtrtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Oxtrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Oxtrtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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