Gene Summary

Name:
RB transcriptional corepressor like 2
Synonyms:
p130,  Rb2,  retinoblastoma-like 2

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
persistence of hyaloid vascular system Rbl2tm1b(EUCOMM)Hmgu HET Early adult 2.24×10-05
increased circulating HDL cholesterol level Rbl2tm1b(EUCOMM)Hmgu HET Early adult 6.39×10-06
preweaning lethality, incomplete penetrance Rbl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal retina morphology Rbl2tm1b(EUCOMM)Hmgu HET Early adult 1.79×10-05
increased circulating cholesterol level Rbl2tm1b(EUCOMM)Hmgu HET Early adult 5.24×10-05

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)
Bone  Section images heterozygote 100% (2 of 2)
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)
Lymph node  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)
Peyer's patch  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 100% (2 of 2)
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
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% (1 of 1)
Embryo N/A homozygote 50% (1 of 2)
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 50% (1 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 50% (1 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 0.0% (0 of 2)
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Adult LacZ

LacZ Images Section

46 Images

Sleep Wake

Wake state (bmp file)

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

2 Images

Human diseases caused by Rbl2 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.

The table below shows human diseases associated to Rbl2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy OMIM:619690

The table below shows human diseases predicted to be associated to Rbl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina... OMIM:238600
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Retinal detachment OMIM:182290
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased variability in muscle fiber diameter, Neonatal death, Hypertrophic cardio... OMIM:614096
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Short hallux, Pericardial effusion, Metaphyseal ... OMIM:239850
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:858
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Abetalipoproteinemia OMIM:200100
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrocephalus, Splenomegaly, Metaphyseal irregularity, Cardiomegaly OMIM:269920
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Laron Syndrome
Hypercholesterolemia ORPHA:633
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Di... OMIM:300280
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Retinal detachment ORPHA:819
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Papilledema, Hypercholesterolemia, Retinal vascular tortuosity OMIM:619471
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Syndactyly OMIM:613576
Neuhauser Syndrome
Retinal detachment, Hypercholesterolemia OMIM:249310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Trans... OMIM:306955
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardio... OMIM:212140
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, Pu... ORPHA:3092
Cantú Syndrome
Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Abnormal heart valve morphology,... ORPHA:1517
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Intrauterine growth re... OMIM:253250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:614702
Timothy Syndrome
Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Patent ductus arteriosus, Cardio... OMIM:601005
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:619051
Danon Disease
Lower limb amyotrophy, Myocardial necrosis, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:300257
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Limb undergrowth, Fle... OMIM:616897
Long-Olsen-Distelmaier Syndrome
Polymicrogyria, Secundum atrial septal defect, Pachygyria, Cardiomegaly, Dilated cardiomyopathy, ... OMIM:620609
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Skeletal muscle atrophy, Cardiomegaly, Myopathy ORPHA:42
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Exercise-induced rhabdomyolysis, Hepatocellular necros... OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Cardiomyopathy, Limb muscle weakness OMIM:266500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Intrauterine growth retardation, Left ventricular hypertrophy, Card... OMIM:617713
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mit... ORPHA:324410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral ... OMIM:245600
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Large... ORPHA:363705
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Hydrocephalus, Polymicrogyria, Cardiomyopathy, A... ORPHA:228308
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Multiple joint contractures, ... OMIM:618143
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Adducted thumb, Torticollis, Femoral bowing, Ventricular septal defect, Incr... OMIM:617022
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Tapered toe, Long toe, Polymicrogyria, Elbow flexion contracture, ... OMIM:608836
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular syste... OMIM:609049
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Carpal bone hypoplasia, Talipes equinovarus, Diastasis recti, Spli... OMIM:252500
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Gaucher Disease, Type Iiic
Hepatomegaly, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic va... OMIM:231005
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger... OMIM:602782
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Metaphyseal cupping, Wide distal femoral metaphysis, Micromelia OMIM:613320
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Umbilical hernia, Patent ductus arteriosus, Cardiomegaly... ORPHA:96191
Familial Aortic Dissection
Cardiomegaly, Patent ductus arteriosus ORPHA:229
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Muscular edema, Scapular wingin... ORPHA:268
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Hydrocephalus, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion... OMIM:261740
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, 2-3 ... ORPHA:158687
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly, Abnormal metacar... ORPHA:465508
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Genu valgum, Hydrocephalus, Abnormal mitral valve... ORPHA:581
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Neonatal death, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis mult... OMIM:608013
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly, Macroglossia OMIM:268800
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Alagille Syndrome 1
Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia, Pigmentary retinopathy OMIM:118450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hammertoe, Limb hypertonia, Hydranencephaly, Hydrocephalus, Polymicrogyria, Patent foramen ovale,... OMIM:620371
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metacarpal cortices, Thin metatarsal cortices, Hypoplasia of the musculature, Arachnodactyly... ORPHA:2463
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defec... ORPHA:79330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:619259
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Cardiomegaly, Short femur, Short tibia, Talipes equinovarus OMIM:620306
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Chorioretinal dysplasia, Hyperch... ORPHA:534
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Rhabdomyolysis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal heart morph... ORPHA:980
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Firm muscles, Limb muscle weakness, Splenomegaly... OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardio... ORPHA:308552
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia, Pigmentary retinopathy OMIM:606721
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phalan... OMIM:300967
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Clinodactyly ... OMIM:300855
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fucosidosis
Hepatomegaly, Generalized amyotrophy, Splenomegaly, Flexion contracture, Cardiomegaly, Macrogloss... OMIM:230000
Congenital Tracheomalacia
Patent ductus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmo... ORPHA:95430
Bohring-Opitz Syndrome
Facial hypotonia, Metacarpophalangeal joint contracture, Bilateral wrist flexion contracture, Con... ORPHA:97297
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Yunis-Varon Syndrome
Rocker bottom foot, Abnormal finger morphology, Cardiomyopathy, Aplasia of the 1st metacarpal, Sl... ORPHA:3472
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, EMG: myopathic a... ORPHA:365
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, Patent ductus arteriosus ORPHA:91387
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large placenta, Rhabdomyosarcoma, Enlarged kidney, Leiomyosarcom... ORPHA:116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hydrocephalus, Hepatomegaly ORPHA:137675
Abetalipoproteinemia
Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly, Myopathy, Talipes equinovarus ORPHA:14
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Epiretinal membrane, Abnormal optic n... ORPHA:637
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Williams Syndrome
Pulmonic stenosis, Mitral valve prolapse, Umbilical hernia, Cardiomegaly, Adducted thumb, Bicuspi... ORPHA:904
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent ductus arteriosus, Patent foramen ovale, Intrauteri... OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Coloboma, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulatin... OMIM:619534
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Flexion contracture of toe, Clubbing of fingers, Finger swelling, Elbow flexion con... OMIM:256040
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia, Cardiomeg... OMIM:130650
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Aicardi-Goutières Syndrome
Myositis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Multiple joint contractures ORPHA:51
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Intrauterine growth retardation OMIM:620376
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Holoprosencephaly 2
Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Neuroocular Syndrome
Lens coloboma, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormal calcification of the carpal bones, Pericardial effusion, Cardio... ORPHA:51608
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy OMIM:619690

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 Rbl2

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 Rbl2.

No publications found that use IMPC mice or data for Rbl2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rbl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rbl2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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