Gene Summary

Name:
polycomb group ring finger 1
Synonyms:
Nspc1,  2010002K04Rik

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 looping Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart morphology Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Pcgf1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased fasting circulating glucose level Pcgf1tm1.1(KOMP)Vlcg HET   Early adult 9.87×10-05
hyperactivity Pcgf1tm1.1(KOMP)Vlcg HET   Late adult 8.94×10-05
abnormal lens morphology Pcgf1tm1.1(KOMP)Vlcg HET   Early adult 4.99×10-05
abnormal midbrain development Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal forebrain development Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube closure Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic growth retardation Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal pharyngeal arch morphology Pcgf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Pcgf1tm1.1(KOMP)Vlcg HOM   Early adult 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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote Ambiguous
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate 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 Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head 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)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of male N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)

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 marrow 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)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 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%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
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)
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)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
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)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of male 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)

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 Section

44 Images

Gross Morphology Embryo E9.5

Images

12 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Eye Morphology

Images Slit Lamp

2 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Pcgf1 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 Pcgf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma, Hyperinsulinemic hypoglycemia, Diabetes mellitus,... OMIM:147630
Trichomegaly
Cataract OMIM:190330
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity OMIM:616657
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Aniridia 2
Cataract, Aniridia OMIM:617141
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis, Microcephaly, Short stature, Br... ORPHA:1131
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Proximal Myotonic Myopathy
Cataract ORPHA:606
Branchiogenic-Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula OMIM:609166
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1908
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Cystic hygroma, Intrauterine growth retardation, Atrial septal... ORPHA:453499
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Morm Syndrome
Hyperactivity ORPHA:75858
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Microcephaly, Severe postnatal growth retardation ORPHA:435938
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Hyperprolinemia, Type I
Hyperactivity OMIM:239500
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Short neck, Panhypopituitarism, Aplasia... ORPHA:2162
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Branchiogenic Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula ORPHA:50815
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Neural tube defect, Microcephaly, Ca... ORPHA:79321
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Histidinemia
Hyperactivity ORPHA:2157
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Branchiootorenal Syndrome 1
Branchial cyst, Abnormal cerebral morphology, Branchial fistula OMIM:113650
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
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 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Growth delay, Microcephaly, Short stature,... ORPHA:261330
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Tricuspid valve prolapse, Microcephaly, Branchial fistula,... ORPHA:261337
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Hypoplastic left heart, Short stature, Microcephaly, Mit... OMIM:617660
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Bor Syndrome
Branchial cyst ORPHA:107
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Hyperglycemia OMIM:615986
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity OMIM:612716
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient neonatal diabet... ORPHA:552
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Limitation of nec... ORPHA:268810
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Iniencephaly
Myelomeningocele, Cystic hygroma, Rhizomelia, Anencephaly, Spinal dysraphism, Lissencephaly, Spin... ORPHA:63259
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Truncus arteriosus, Hypoplasia of the cor... ORPHA:508488
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Craniofacial Microsomia
Tetralogy of Fallot, Agenesis of corpus callosum, Patent ductus arteriosus, Occipital encephaloce... OMIM:164210
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Branchia... OMIM:113620
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:220386
Alobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93925
Lobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93924
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93926
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Neural tube defect, Abnormal heart morphology, Cerebral co... ORPHA:798
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424

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 Pcgf1

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 Pcgf1.

No publications found that use IMPC mice or data for Pcgf1.

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MGI Allele Allele Type Produced
Pcgf1tm447423(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pcgf1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Pcgf1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pcgf1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pcgf1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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