Gene Summary

Name:
RB transcriptional corepressor like 2
Synonyms:
Rb2,  p130,  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
abnormal retina morphology Rbl2tm1b(EUCOMM)Hmgu HET Early adult 1.12×10-05
preweaning lethality, incomplete penetrance Rbl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

12 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

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Retinal dystrophy OMIM:615860
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Ethanolaminosis
Cardiomegaly OMIM:227150
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Cantu Syndrome
Short hallux, Erlenmeyer flask deformity of the femurs, Broad first metatarsal, Pericardial effus... OMIM:239850
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Hydrocephalus, Cardiomegaly OMIM:300886
Congenital Toxoplasmosis
Intrauterine growth retardation, Cardiomegaly, Hydrocephalus, Hepatomegaly ORPHA:858
Myopia, High, With Cataract And Vitreoretinal Degeneration
Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus OMIM:269920
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Generalized amyotrophy, Cardiomegaly, Dilated ... OMIM:300257
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... OMIM:601005
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Myopathy,... OMIM:212140
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Finger syndactyly, Abnormal heart valve morphology, Broad hallux phalanx, Patent du... ORPHA:1517
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Intrauterine growth retardation, Pericardial con... OMIM:253250
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy OMIM:256550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Flexion contracture, Limb undergrowth, Decreased fibular ... OMIM:616897
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Hepatomegaly, Cardiomegaly, Hypertrophi... OMIM:201475
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Cardiomegaly, Short fourth metatarsal OMIM:266500
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Increased muscle lipid content, Enlarged kidney, Abnormality of neuronal migration, ... OMIM:608836
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Intr... OMIM:617022
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Renal tubular epithelial necrosis, Abnormality of neuronal migration, Hepatomegaly, P... ORPHA:228308
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Car... ORPHA:324410
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Macroglossia, Arthrogryposis multiplex congenita, Short fourth metatarsal, ... OMIM:618143
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger,... OMIM:602782
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Metatarsus adductus, Cardiomegaly, Congenital diaphragmatic hernia, Patent foramen ov... OMIM:245600
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Cardiomegaly, Micromelia OMIM:613320
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Split hand, Carpal bone hypoplasia, Umbilical hernia, Hepatomegaly... OMIM:252500
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hepatomegaly... ORPHA:96191
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal muscle weakness in lower l... ORPHA:268
Familial Aortic Dissection
Patent ductus arteriosus, Cardiomegaly ORPHA:229
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly OMIM:618838
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormality of metacarpophalange... ORPHA:465508
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Lethal Acantholytic Erosive Disorder
2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, 3-4 finger syndactyly, Cardio... ORPHA:158687
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:261740
Fucosidosis
Macroglossia, Flexion contracture, Hepatomegaly, Cardiomegaly, Splenomegaly, Coxa valga OMIM:230000
Mucopolysaccharidosis Type 3
Genu valgum, Macroglossia, Abnormal mitral valve morphology, Flexion contracture, Abnormal aortic... ORPHA:581
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Hepatomegaly, Cardiomegaly, Splenomegaly, Intrauterine growth... OMIM:608013
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Thin metacarpal cortices, Thenar muscle atrophy, Hypoplasia of the mus... ORPHA:2463
Glycogen Storage Disease Ii
Macroglossia, Firm muscles, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Greenberg Dysplasia
Postaxial hand polydactyly, Abnormal ossification involving the femoral head and neck, Short phal... OMIM:215140
Sandhoff Disease
Macroglossia, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Hepatosplenomegaly OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Aplasia/hypoplasia involving... ORPHA:3384
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertr... ORPHA:308552
Leigh Syndrome With Nephrotic Syndrome
Intrauterine growth retardation, Cardiomegaly ORPHA:255249
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... ORPHA:97297
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Metatarsus adductus, Cardiomegaly, Aplasia/hypoplasia o... ORPHA:3472
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Large placenta, Visceromegaly, Umbilical hernia, ... ORPHA:116
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Patent ductus arteriosus, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Abetalipoproteinemia
Hepatomegaly, Distal lower limb muscle weakness, Cardiomegaly, Talipes equinovarus, Myopathy ORPHA:14
Aicardi-Goutières Syndrome
Arrhinencephaly, Multiple joint contractures, Cardiomegaly, Myositis, Hepatosplenomegaly, Hypertr... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Williams Syndrome
Abnormal endocardium morphology, Patent ductus arteriosus, Cardiomegaly, Spina bifida occulta, Mi... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Camptodactyly of finger, Macroglossia, Flexion contracture of finger, Flexio... OMIM:256040
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Singleton-Merten Syndrome 1
Genu valgum, Expanded metacarpals with widened medullary cavities, Tendon rupture, Mitral valve c... OMIM:182250
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Abnormal calcification of the carpal bones, Myocar... ORPHA:51608
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665

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.

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

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