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
enlarged heart Rassf8tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Rassf8tm1.1(KOMP)Vlcg HOM   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, complete penetrance Rassf8tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal coat/ hair morphology Rassf8tm1.1(KOMP)Vlcg HET Early adult 3.52×10-05
abnormal heart morphology Rassf8tm1.1(KOMP)Vlcg HET Early adult 0.00

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 N/A heterozygote 100% (2 of 2)
Aorta N/A 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 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 50% (1 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
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
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
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)
Midbrain N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 50% (1 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
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)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

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
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Atrioventricular canal defect DECIPHER:39
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism,... OMIM:235200
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, ... OMIM:252920
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly OMIM:269920
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Thick eyebrow, Cardiomegaly... OMIM:300280
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Cardi... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Mogs-Cdg
Alopecia, Fair hair, Hepatosplenomegaly, External genital hypoplasia, Long eyelashes, Hirsutism, ... ORPHA:79330
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long eyelashes, Curly eyelashes, Cardiomegaly, Bicuspid... OMIM:239850
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidism OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Bone Marrow Failure Syndrome 5
Testicular atrophy, Nail dystrophy, Hypogonadism OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Naxos Disease
Sparse eyebrow, Dilated cardiomyopathy, Sparse body hair, Abnormal heart morphology, Right ventri... OMIM:601214
Wolfram Syndrome 1
Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias OMIM:616897
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Hypertrichosis, Abnormal heart valve morphology, Ventricular septal defect... ORPHA:363705
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly OMIM:617713
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl... ORPHA:1517
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Absent hair, Congenital alopecia totalis, Cardiomegaly, Absent eyelashes, Absent ... ORPHA:158687
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Sickle Cell Disease
Cholelithiasis, Priapism, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:603903
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... OMIM:130650
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Fucosidosis
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Highly arched eyebrow, Cardiomegaly, Cryptorchidism OMIM:618143
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Cardiomegaly, Low posterior hairline, Abnormal thymus morphology, Synophrys ORPHA:2463
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Decreased serum insulin-like gro... OMIM:614921
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Thick eyebrow, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ... OMIM:245600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Mucopolysaccharidosis Type 3
Coarse hair, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Ca... ORPHA:581
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy OMIM:608836
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Ogden Syndrome
Sparse eyebrow, Secundum atrial septal defect, Fine hair, Decreased testicular size, Long eyelash... OMIM:300855
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Long eyelashes, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Synophrys OMIM:620371
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Brittle hair, Hepatomega... OMIM:252500
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Hypertrichosis, Cardiomegaly, Abnormal cardiac septum morpholog... ORPHA:97297
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Thick eyebrow OMIM:230000
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Epididymitis, Congenital... OMIM:620376
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias,... ORPHA:3063
Steinert Myotonic Dystrophy
Early balding, Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Alopecia, De... ORPHA:273
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Yunis-Varon Syndrome
Clitoral hypertrophy, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventri... ORPHA:3472
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Liver Disease, Severe Congenital
Dry hair, Pancreatic hypoplasia, Dilatation of the ventricular cavity, Splenomegaly, Patent foram... OMIM:619991
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Adrenocortical cytomega... ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis... OMIM:256040
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Hypothyroidism, Micropenis, Diabet... ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Abetalipoproteinemia
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Williams Syndrome
Precocious puberty, Cholelithiasis, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Type II dia... ORPHA:904
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Pancreatic calcification, Cardiomegaly, Pericardi... ORPHA:51608
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Cardiomegaly, Mitral v... OMIM:182250

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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