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Gene: Hnrnpc MGI:107795

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Gene Summary

Name:
heterogeneous nuclear ribonucleoprotein C
Synonyms:
D14Wsu171e,  Hnrpc2,  Hnrpc1,  hnRNPC2,  hnRNP C2,  hnRNP C1,  hnRNPC1,  Hnrpc

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 iris transillumination Hnrnpctm1b(EUCOMM)Hmgu HET Early adult 8.07×10-05
preweaning lethality, complete penetrance Hnrnpctm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal lens morphology Hnrnpctm1b(EUCOMM)Hmgu HET Early adult 3.28×10-05
embryonic lethality prior to organogenesis Hnrnpctm1b(EUCOMM)Hmgu HOM   E9.5 0.00
decreased circulating serum albumin level Hnrnpctm1b(EUCOMM)Hmgu HET   Early adult 1.26×10-07
increased exploration in new environment Hnrnpctm1b(EUCOMM)Hmgu HET Early adult 6.99×10-06
improved glucose tolerance Hnrnpctm1b(EUCOMM)Hmgu HET Early adult 3.56×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote Ambiguous
Cartilage tissue  Section images heterozygote Ambiguous
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  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)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote Ambiguous
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)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system 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
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
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)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
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)
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)
striatum 0.5% (3 of 598)
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)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Sleep Wake

Wake state (bmp file)

10 Images

View images
Adult LacZ

LacZ Images Section

22 Images

View images
Eye Morphology

Images Ophthalmoscopy

2 Images

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Eye Morphology

Images Slit Lamp

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

6 Images

View images

Human diseases caused by Hnrnpc 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 Hnrnpc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Type II diabetes mellitus, Developmental cata... OMIM:147630
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia OMIM:613752
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia OMIM:618805
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Dementia, Elevated circulating creatine kinase concentration, Hypercholeste... OMIM:208920
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hype... OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Cataract OMIM:618660
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... OMIM:242150
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Increased circulating ferritin concentration, Nuclear cataract OMIM:600886
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Hemochromatosis, Type 4
Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Cataract, Increas... OMIM:606069
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating lipid concentration, Fasting hypoglycemia, Diabetic ketoac... ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Increased LDL ... OMIM:267700
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Citrullinemia Type Ii
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... ORPHA:247585
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Mental deterioration, Hypoalbuminemia OMIM:617575
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Chorioretinal hyperpigmentation, Hypoglycemia, Progressive neurologic deteriorat... OMIM:618329
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... ORPHA:529799
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Irritability, Increased circulating ferritin concentration, Hypoprotei... OMIM:603553
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, H... ORPHA:1667
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Hepatoportal Sclerosis
Hyperbilirubinemia, Cognitive impairment, Hypoalbuminemia ORPHA:64743
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Leishmaniasis
Hypoalbuminemia ORPHA:507
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Corneal erosion, Decreased plasma carnitine, Decreased serum iron, Anxiety, Abnormal circulating ... ORPHA:89842
Avian Influenza
Conjunctivitis, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated ... ORPHA:454836
Norrie Disease
Aggressive behavior, Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior ... OMIM:310600
Congenital Enterovirus Infection
Hyperammonemia, Irritability, Hypoalbuminemia ORPHA:292
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Chorioretinal hypopigmentation, Corneal neovascularizati... OMIM:106210
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Aicardi-Goutieres Syndrome 9
Chorioretinal atrophy, Irritability, Self-mutilation, Hypoalbuminemia OMIM:619487
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Hypoalbuminemia, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619055
Wilson Disease
Glycosuria, Decreased circulating ceruloplasmin concentration, Increased circulating copper conce... OMIM:277900
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubin... OMIM:617156
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Opacification of the corneal stroma, Cataract, Hypoalbuminemia OMIM:251300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Hypoalbuminemia OMIM:617303
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoconjunctivitis sicca, Abnormal... ORPHA:14
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Xfe Progeroid Syndrome
Corneal scarring, Hypoalbuminemia OMIM:610965
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Hepatocellular Carcinoma
Type II diabetes mellitus, Hyperbilirubinemia, Hypokalemia, Emotional lability, Hypoglycemia, Hyp... ORPHA:88673
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Type I diabetes mellitus, Abnormal blood ion concentration, Hypocalce... ORPHA:37042
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Mental deterioration, Hypoalbuminemia OMIM:254900
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia, Hyponatremia ORPHA:79324
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Insulin r... ORPHA:3163
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Cognitive impairment, Abnormality of iron homeostasis, Increased serum iron, ... OMIM:222470
Marburg Hemorrhagic Fever
Aggressive behavior, Hypokalemia, Uveitis, Elevated circulating creatine kinase concentration, Hy... ORPHA:99826
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia ORPHA:79396
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism ORPHA:54
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Facial Spasm
Anisocoria OMIM:134300
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Hypoalbuminemia ORPHA:505248
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... ORPHA:209959
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H... ORPHA:90363
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cataract, Megalocornea, Elevated circulating creatine kinase concent... ORPHA:370959
Smith-Lemli-Opitz Syndrome
Aggressive behavior, Cataract, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Self-mutilatio... OMIM:270400
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Uveitis, Hypoalbuminemia ORPHA:171
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypoglycemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Triopia
Abnormal pupil morphology, Iris coloboma, Microcornea ORPHA:3374
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Coats Disease
Leukocoria OMIM:300216
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Pierson Syndrome
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... OMIM:609049
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Norrie Disease
Abnormal pupil morphology, Self-injurious behavior, Hypoplasia of the iris, Anterior chamber syne... ORPHA:649
Oculodentodigital Dysplasia
Hypoglycemia, Cataract, Microcornea, Abnormality iris morphology ORPHA:2710
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Tubulointerstitial Nephritis And Uveitis Syndrome
Anterior chamber flare, Posterior synechiae of the anterior chamber, Choroidal neovascularization... ORPHA:91500
Pmm2-Cdg
Hyperinsulinemia, Insulin resistance, Cataract, Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387

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 Hnrnpc

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 Hnrnpc.

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

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MGI Allele Allele Type Produced
Hnrnpctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hnrnpctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hnrnpctm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Hnrnpctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hnrnpctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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