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Gene: Rbl2 MGI:105085

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Gene Summary

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

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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
preweaning lethality, incomplete penetrance Rbl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating cholesterol level Rbl2tm1b(EUCOMM)Hmgu HET Early adult 5.24×10-05
abnormal retina morphology Rbl2tm1b(EUCOMM)Hmgu HET Early adult 8.18×10-06
increased circulating HDL cholesterol level Rbl2tm1b(EUCOMM)Hmgu HET Early adult 6.39×10-06

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  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 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
urinary bladder 0.0%
uterus 0.35% (2 of 579)
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.

Adult LacZ

LacZ Images Section

46 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

2 Images

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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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Ethanolaminosis
Cardiomegaly OMIM:227150
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increased circulating chylomicron concent... OMIM:238600
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Retinal degeneration, Hypertriglyceridemia,... OMIM:615558
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... OMIM:618654
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardio... OMIM:614096
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Smith-Magenis Syndrome
Hypertriglyceridemia, Retinal detachment, Hypercholesterolemia OMIM:182290
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Congenital Toxoplasmosis
Cardiomegaly, Intrauterine growth retardation, Hepatomegaly, Hydrocephalus ORPHA:858
Laron Syndrome
Hypercholesterolemia ORPHA:633
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Cantu Syndrome
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... OMIM:239850
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Hydrocephalus OMIM:269920
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Intrauterine growth retardation, Perimembranous ventricular septal defect, ... OMIM:620135
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Camptodactyly, Left atrial enlargement, Left ventricular hypertrophy, Cardi... OMIM:300280
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... ORPHA:860
Smith-Magenis Syndrome
Hypertriglyceridemia, Retinal detachment, Hypercholesterolemia ORPHA:819
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Papilledema, Retinal vascular tortuosity, Rod-cone dystrophy OMIM:619471
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... OMIM:618652
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Carnitine Deficiency, Systemic Primary
Myopathy, Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Reduced muscle... OMIM:212140
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Mulibrey Nanism
Intrauterine growth retardation, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Car... OMIM:253250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:306955
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Intrauterine growth retardation, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Danon Disease
Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy, Myocardial necrosis,... OMIM:300257
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Intrauterine growth retardation, Ventricular hypertrophy OMIM:619051
Neuraminidase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256550
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, C... OMIM:601005
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatocellular necros... OMIM:201475
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Cantú Syndrome
Umbilical hernia, Abnormal heart valve morphology, Patent ductus arteriosus, Hypertrophic cardiom... ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... ORPHA:85451
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy, Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular s... OMIM:115197
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Intrauterine growth retard... ORPHA:555874
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Intrauterine growth retardation, Hepatome... OMIM:617713
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
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Hydrocephalus, Cardiomyopathy, Hepatomegaly, Renal tubular epithelial necrosis, P... ORPHA:228308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Flexion ... OMIM:616897
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Limb muscle weakness OMIM:266500
Craniofaciofrontodigital Syndrome
Macroglossia, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, B... ORPHA:363705
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Contractures of the large joints, Abn... ORPHA:324410
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Gaucher Disease, Type Iiic
Hydrocephalus, Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral steno... OMIM:231005
Hemochromatosis, Type 1
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:235200
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Hepat... ORPHA:96191
Familial Aortic Dissection
Cardiomegaly, Patent ductus arteriosus ORPHA:229
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Right ventricular hypertroph... ORPHA:268
Developmental And Epileptic Encephalopathy 95
Macroglossia, Umbilical hernia, Multiple joint contractures, Hepatomegaly, Arthrogryposis multipl... OMIM:618143
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation OMIM:618838
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Enlarged kidney, Knee flexion contracture, Hepatomegaly, Elbow flexion contractur... OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Enlarged kidney, Increased myocardial glycogen content, Myopathy, Hydrocephalus, Ca... OMIM:261740
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Lethal Congenital Contracture Syndrome 10
Macroglossia, Torticollis, Ventricular septal defect, Intrauterine growth retardation, Overriding... OMIM:617022
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonic stenosis, Atrial septal defe... OMIM:602782
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Camptodactyly, Enlarged kidney, Umbilical hernia, Hepatomegaly, My... OMIM:252500
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Intrauterine growth retardation, Hepatomegaly, Neonatal death, Arthrogryposis... OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Hydrocephalus, Bicuspid aortic valve, Patent ... OMIM:245600
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly ORPHA:99931
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly OMIM:268800
Fucosidosis
Decreased muscle mass, Cardiomegaly, Hepatomegaly ORPHA:349
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Mucopolysaccharidosis Type 3
Macroglossia, Hydrocephalus, Umbilical hernia, Abnormal mitral valve morphology, Hepatomegaly, Ab... ORPHA:581
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Intrauterine growth retardation ORPHA:255249
Alagille Syndrome 1
Hypertriglyceridemia, Pigmentary retinopathy, Chorioretinal atrophy, Hypercholesterolemia OMIM:118450
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... ORPHA:1329
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Limb muscle weakness OMIM:619259
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:614921
Glycogen Storage Disease Ii
Macroglossia, Increased muscle glycogen content, Hepatomegaly, Firm muscles, Cardiomegaly, Spleno... OMIM:232300
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly ORPHA:79330
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomega... ORPHA:308552
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia,... ORPHA:534
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly, Intrauterine growth retardation ORPHA:158687
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Fucosidosis
Macroglossia, Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Small hypothenar eminence ORPHA:2463
Truncus Arteriosus
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... ORPHA:3384
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Multiple joint contractures, Hypertrophic cardiomyopathy, Arrhinencephaly, Ca... ORPHA:51
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Pigmentary retinopathy, Hypercholesterolemia OMIM:606721
Ogden Syndrome
Secundum atrial septal defect, Torticollis, Left atrial enlargement, Ventricular septal defect, A... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... OMIM:620066
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Left ventricular hypertrophy, Lower limb muscle weakness, Hepatomegaly, EMG: myopat... ORPHA:365
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... OMIM:309000
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Cardiomegaly, Intrauterine growth retardation, Lower limb hy... ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Hepatocellular necrosis, Cardiomegaly OMIM:618278
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Umbilical hernia, Hepatomegaly, Leiomyosarcoma, C... ORPHA:116
Yunis-Varon Syndrome
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Cardiomyopathy, Hydrocephal... ORPHA:3472
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus ORPHA:91387
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Abetalipoproteinemia
Myopathy, Cardiomegaly, Hepatomegaly, Distal lower limb muscle weakness ORPHA:14
Liver Disease, Severe Congenital
Left atrial enlargement, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Intra... OMIM:619991
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Williams Syndrome
Macroglossia, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia... ORPHA:904
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancr... OMIM:130650
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Skeletal muscle atrophy, Hepat... OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve steno... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy 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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