Gene Summary

Name:
nuclear receptor subfamily 6, group A, member 1
Synonyms:
Gcnf,  1700113M01Rik,  NCNF

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
abnormal heart morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal heart looping Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal midbrain development Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal hindbrain development Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
decreased body length Nr6a1Nr6a1 HET Early adult 4.46×10-07
abnormal somite shape Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Nr6a1tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
abnormal neural tube morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal allantois morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal embryo development Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal forebrain development Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal chorioallantoic fusion Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal optic vesicle formation Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal pericardium morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal embryo turning Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal neural tube closure Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Nr6a1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal tail bud morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal pharyngeal arch morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal visceral yolk sac morphology Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal embryo size Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
pale yolk sac Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00
increased startle reflex Nr6a1Nr6a1 HET Early adult 4.12×10-05
embryonic growth retardation Nr6a1tm1b(EUCOMM)Wtsi HOM E9.5 0.00

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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 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
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 100% (2 of 2)
Mesonephros of male N/A heterozygote 100% (2 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
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)
mammary gland 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)
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)
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)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
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)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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 Skull Lateral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Embryo LacZ

LacZ images wholemount

4 Images

Histopathology

Images

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Nr6a1 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 Nr6a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis, Microcephaly, Short stature, Br... ORPHA:1131
Branchiogenic-Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula OMIM:609166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Cystic hygroma, Atrial septal... ORPHA:453499
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Holoprosencephaly
Abnormal pulmonary valve morphology, Chorioretinal coloboma, Tetralogy of Fallot, Short neck, Pan... ORPHA:2162
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Microcephaly, Severe postnatal growth retardation ORPHA:435938
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Ventricular septal defect, Anterior encephalocele, Absent septum pellucidum, Holoprosen... OMIM:601357
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Neural tube defect, Microcephaly, Ca... ORPHA:79321
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiogenic Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula ORPHA:50815
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Cystic hygroma, Agenesis of corpus callosum, Atrial septal def... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Cystic hygroma, Agenesis of corpus callosum, Atrial septal def... ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Tricuspid valve prolapse, Microcephaly, Branchial fistula,... ORPHA:261337
Oligomeganephronia
Branchial cyst, Optic disc coloboma, Secundum atrial septal defect ORPHA:2260
Branchiootorenal Syndrome 1
Branchial cyst, Abnormal cerebral morphology, Branchial fistula OMIM:113650
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism,... ORPHA:1926
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Growth delay, Microcephaly, Short stature,... ORPHA:261330
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Hypoplastic left heart, Short stature, Microcephaly, Mit... OMIM:617660
Bor Syndrome
Branchial cyst ORPHA:107
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Iris coloboma, Encephalocele ORPHA:861
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphis... ORPHA:63260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Iniencephaly
Gastroschisis, Myelomeningocele, Absent vertebra, Anencephaly, Hyperlordosis, Anal atresia, Spina... ORPHA:63259
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Limitation of nec... ORPHA:268810
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Truncus arteriosus, Hypoplasia of the cor... ORPHA:508488
Alobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93924
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:220386
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Iris coloboma, Microcephaly, Postnatal growth retard... OMIM:113620
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Craniofacial Microsomia
Tetralogy of Fallot, Agenesis of corpus callosum, Patent ductus arteriosus, Occipital encephaloce... OMIM:164210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Schinzel-Giedion Syndrome
High palate, Aganglionic megacolon, Macroglossia, Neural tube defect, Abnormal heart morphology, ... ORPHA:798
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Tay-Sachs Disease
Laryngeal dystonia, Dystonia, Tremor, Exaggerated startle response ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Nr6a1

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 Nr6a1.

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

Title Journal IMPC Allele PubMed ID
The ligand binding domain of GCNF is not required for repression of pluripotency genes in mouse fetal ovarian germ cells. PloS one (June 2013) Nr6a1tm1c(EUCOMM)Wtsi Nr6a1tm1a(EUCOMM)Wtsi Nr6a1tm1d(EUCOMM)Wtsi PMC3676325

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MGI Allele Allele Type Produced
Nr6a1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Nr6a1tm47175(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nr6a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nr6a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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