Gene Summary

Name:
Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
Synonyms:
mHoj-1,  5133400D11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Rassf8tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Rassf8tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal testis morphology Rassf8tm1.1(KOMP)Vlcg HET Early adult 0.00
small testis Rassf8tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Rassf8tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal coat/ hair morphology Rassf8tm1.1(KOMP)Vlcg HET Early adult 1.29×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 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)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

80 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Rassf8 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 Rassf8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... OMIM:615542
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Cryptorchidism, Atrial septal defect DECIPHER:39
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Alopeci... OMIM:235200
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, ... OMIM:252920
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Patent foramen ovale OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys OMIM:619064
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Fair hair, Splenomegaly OMIM:269920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Cardiom... ORPHA:465508
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Myotonic Dystrophy 1
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism OMIM:160900
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Curly eyelashes, Cardiomegaly, Long eyelashes, Conge... OMIM:239850
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Mogs-Cdg
Hepatomegaly, Hirsutism, Inappropriate antidiuretic hormone secretion, External genital hypoplasi... ORPHA:79330
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Cardiomyopathy, Diabetes mellitus, Hypothyroidism OMIM:222300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Nail dystrophy, Card... OMIM:601214
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... ORPHA:363705
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis OMIM:616897
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Alopecia o... OMIM:602782
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Low anterior hairline, Curly eyelashes, Cardiomegaly, Long eyelashes... ORPHA:1517
Sickle Cell Anemia
Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly OMIM:603903
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Cardiomegaly, Cardiomyopathy, Absent eyelashes, Absent ... ORPHA:158687
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... ORPHA:96191
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... OMIM:130650
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Cryptorchidism, Cardiomegaly, Hepatomegaly OMIM:618143
Fucosidosis
Hepatomegaly, Cardiomegaly, Hypothyroidism ORPHA:349
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Cardiomegaly, Abnormality of the thymus, Low posterior hairline, Synophrys ORPHA:2463
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Fucosidosis
Thick eyebrow, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Pineal cyst, Right vent... OMIM:300967
Truncus Arteriosus
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... ORPHA:3384
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Mucopolysaccharidosis Type 3
Hepatomegaly, Hirsutism, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Coar... ORPHA:581
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Sparse and thin eyebrow OMIM:252500
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Bohring-Opitz Syndrome
Hypertrichosis, Annular pancreas, Cardiomegaly, Cholelithiasis, Abnormal cardiac septum morpholog... ORPHA:97297
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Sparse eyebrow, Cryptorchidism,... ORPHA:3063
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Endometrial carcinom... ORPHA:273
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Yunis-Varon Syndrome
Hypospadias, Hypoplastic labia majora, Ventricular septal defect, Sparse eyelashes, Cardiomegaly,... ORPHA:3472
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Polycystic ovaries, Cardiomegaly ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hypertrichosis, Epididymitis, Cardiomegaly, Parotitis, Splenomegaly, Elevated circu... OMIM:256040
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... ORPHA:116
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Greenberg Dysplasia
Pancreatic islet-cell hyperplasia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly, Diabetes mellitus, Hyp... ORPHA:51
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Hypothyroidism ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Williams Syndrome
Bicuspid aortic valve, Overriding aorta, Hypertrophic cardiomyopathy, Ventricular septal defect, ... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:365
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... OMIM:182250
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Myocardial calcification, Pericardial effusion, Ventricular hyper... ORPHA:51608

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 Rassf8

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 Rassf8.

No publications found that use IMPC mice or data for Rassf8.

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MGI Allele Allele Type Produced
Rassf8tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Rassf8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rassf8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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