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

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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
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images homozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote Ambiguous
Brown adipose tissue  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 100% (4 of 4)
Duodenum  Wholemount images homozygote 100% (2 of 2)
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Esophagus  Wholemount images homozygote 0.0% (0 of 2)
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Gonadal fat pad  Wholemount images heterozygote 50% (2 of 4)
Gonadal fat pad  Wholemount images homozygote 50% (1 of 2)
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Ileum  Wholemount images heterozygote 100% (4 of 4)
Ileum  Wholemount images homozygote 100% (2 of 2)
Jejunum  Wholemount images heterozygote 100% (4 of 4)
Jejunum  Wholemount images homozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images homozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 0.0% (0 of 4)
Mammary gland  Wholemount images heterozygote 50% (2 of 4)
Mammary gland  Wholemount images homozygote 50% (1 of 2)
Mesenteric adipose tissue  Wholemount images heterozygote 50% (2 of 4)
Mesenteric adipose tissue  Wholemount images homozygote 100% (2 of 2)
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images homozygote 0.0% (0 of 2)
Ovary  Wholemount images heterozygote Not available
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote Not available
Oviduct  Wholemount images homozygote Not available
Pancreas  Wholemount images heterozygote 0.0% (0 of 4)
Pancreas  Wholemount images homozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote Ambiguous
Parathyroid gland  Wholemount images homozygote Ambiguous
Parotid gland  Wholemount images homozygote 0.0% (0 of 2)
Penis  Wholemount images homozygote Not available
Pituitary gland  Wholemount images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images homozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Skin  Wholemount images heterozygote 100% (4 of 4)
Skin  Wholemount images homozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 0.0% (0 of 4)
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images homozygote 100% (2 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images heterozygote Not available
Testis  Wholemount images homozygote Not available
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Tongue  Wholemount images homozygote 100% (2 of 2)
Trachea  Wholemount images homozygote 0.0% (0 of 2)
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote Ambiguous
Uterus  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images homozygote 50% (1 of 2)
Vagina  Wholemount images heterozygote 50% (2 of 4)
Vagina  Wholemount images homozygote 50% (1 of 2)
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
White adipose tissue  Wholemount images heterozygote 50% (2 of 4)
White adipose tissue  Wholemount images homozygote 50% (1 of 2)
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)
Brainstem N/A heterozygote Ambiguous
Brainstem N/A homozygote Ambiguous
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 Ambiguous
Cerebral cortex N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A homozygote 100% (2 of 2)
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)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Eye 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 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)
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 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)
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)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
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)
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 100% (4 of 4)
Small intestine N/A homozygote 100% (2 of 2)
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 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)
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)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve 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 Ambiguous
Vascular system N/A homozygote 100% (2 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 100% (7 of 7)
Embryo N/A homozygote 100% (3 of 3)
Forearm N/A heterozygote 0.0% (0 of 7)
Forearm 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)
Tail N/A heterozygote 100% (7 of 7)
Tail N/A homozygote 100% (3 of 3)
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)
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)
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)
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)
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 0.67% (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 1.2% (6 of 500)
ear 0.2% (1 of 492)
embryo 0.4% (2 of 495)
eye 0.2% (1 of 491)
footplate 0.2% (1 of 496)
forearm 0.35% (1 of 286)
forebrain 0.2% (1 of 497)
forelimb 0.2% (1 of 494)
handplate 0.2% (1 of 491)
head 1.02% (5 of 492)
heart 0.2% (1 of 501)
hindbrain 1% (5 of 498)
hindlimb 0.2% (1 of 488)
liver 0.21% (1 of 479)
lower leg 0.34% (1 of 292)
lung 0.21% (1 of 482)
mandibular process 0.2% (1 of 494)
maxillary process 0.2% (1 of 498)
midbrain 0.2% (1 of 493)
oral cavity 0.2% (1 of 491)
skin 0.2% (1 of 489)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 491)
upper arm 0.34% (1 of 291)
upper leg 0.34% (1 of 296)

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Shyness, Gait ataxia OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability OMIM:615006
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300495
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Poor eye contact, Athetosis OMIM:618141
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Gait ataxia OMIM:618501
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Early-Onset Schizophrenia
Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of peer relationships, Sui... ORPHA:96369
Hsd10 Disease
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608049
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Anxiety, Panic attack, Gait disturbance... ORPHA:255
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Poor eye contact, Self-injurious behavior, Hyperthyroidism, Hyperactivity, Anxiety, Hypothyroidis... ORPHA:449291
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior ORPHA:1020
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Gait ataxia, Progressive gait ataxia, Emotional lability ORPHA:309256
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309263
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive,... ORPHA:96263
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Difficulty walking, Progressive gait ataxia, Abnormal social behavior ORPHA:309271
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Aggressive behavio... ORPHA:314647
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Fg Syndrome Type 1
Broad-based gait, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Inability to walk, Irritability, Abnormal soc... ORPHA:1675
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Decreased response to growth hormone stimulation test, Abnormal soc... ORPHA:177907
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:401973
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Tuberous Sclerosis Complex
Hyperactivity, Self-injurious behavior, Abnormal social behavior, Anxiety, Attention deficit hype... ORPHA:805
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Niemann-Pick Disease Type C
Ataxia, Apathy, Abnormal social behavior, Gait disturbance, Aggressive behavior, Progressive gait... ORPHA:646
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Decreased response to growth hormone stimulation test, Abnormal social behavior... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Decreased response to growth hormone stimulation test, Abnormal social behavior... ORPHA:363958
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Anxiety, Hypothyro... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534

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

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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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