Gene Summary

Name:
small integral membrane protein 8
Synonyms:
1810030N24Rik,  2810406B13Rik

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
increased circulating alkaline phosphatase level Smim8tm1.1(KOMP)Vlcg HOM Early adult 9.22×10-06
increased circulating phosphate level Smim8tm1.1(KOMP)Vlcg HOM Early adult 2.12×10-05
decreased bone mineral content Smim8tm1.1(KOMP)Vlcg HOM   Early adult 3.91×10-05
decreased prepulse inhibition Smim8tm1.1(KOMP)Vlcg HOM Early adult 2.10×10-05
preweaning lethality, incomplete penetrance Smim8tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Smim8tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Smim8tm1.1(KOMP)Vlcg HOM Early adult 0.00

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 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 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)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  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 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  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 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 Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Epididymis N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
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 Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 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

91 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Smim8 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 Smim8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Ethanolaminosis
Cardiomegaly OMIM:227150
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph... ORPHA:36913
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemia, Hypoca... ORPHA:94089
Calciphylaxis
Hyperphosphatemia, Ectopic ossification ORPHA:280062
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Fatigable weakness of swallowing muscles, Hyperphosphatemia, Highly e... ORPHA:99845
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp... OMIM:617994
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Osteoporosis OMIM:612462
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis OMIM:103580
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Hyper... OMIM:239000
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Cardiomyocyte mitochond... ORPHA:423
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened cortex of lon... OMIM:127000
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Fatigable weakness, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612287
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612286
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99879
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Ectopic ossifica... ORPHA:79444
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Hyperphosphatemia, Calvarial hyperostosis, Epiphyseal stippling OMIM:101800
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hypophosp... ORPHA:93160
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Increased circulating beta-C-terminal tel... ORPHA:157215
Pseudohypoparathyroidism Type 1A
Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Increased bone mineral density, ... ORPHA:79443
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin... ORPHA:93325
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,... OMIM:600081
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy OMIM:614096
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone... OMIM:241530
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Hypophosphatemia ORPHA:2611
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone... OMIM:300554
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypocalcemic seizures, Hepatomegaly, Delayed epiphyseal ossification, Hypocalcemia, Card... ORPHA:289157
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Fatigable weakness, Elevated circulating creatine kinase concentration, Hyperammone... ORPHA:42
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Osteoporosis, Increased circulating iron concentration, Splenomegal... OMIM:235200
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, ... OMIM:264700
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Hypophosphatemia, Hypokalemia OMIM:134600
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Hypophosphatemia, Osteomalacia OMIM:613388
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Hepatosplenomegaly, Abnormal circulating calcium concentration... OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Hypophosphatemia, Hypouricemia OMIM:616026
Hypomagnesemia 3, Renal
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... OMIM:248250
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone tr... OMIM:277440
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... ORPHA:85451
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... ORPHA:31824
Fanconi-Bickel Syndrome
Rickets, Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperb... OMIM:227810
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cystinosis
Rickets, Hypophosphatemia, Hypokalemia ORPHA:213
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Osteomalacia,... OMIM:300009
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis, Thickened cortex of lo... OMIM:253250
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Fanconi-Bickel Syndrome
Rickets, Hypertriglyceridemia, Osteopenia, Hepatomegaly, Hypophosphatemia ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hepatomegaly, Hypophosphatemia OMIM:605911
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly OMIM:252920
Fibrous Dysplasia Of Bone
Rickets, Abnormal bone structure, Cortical irregularity, Hypercalcemia, Hypophosphatemia, Osteoly... ORPHA:249
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypophosphatemia, Hypocalcemia ORPHA:352540
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia OMIM:239200
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Cantu Syndrome
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Hypophosphatemia OMIM:156400
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomyopathy, Osteoporosis, Splenomegaly, Cardio... ORPHA:465508
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:266500
Mccune-Albright Syndrome
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Hypophosphatemia, Monostotic fibrous dysplas... ORPHA:562
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Dent Disease
Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Spa... ORPHA:1652
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Hypophosphatemia, Spleno... ORPHA:667
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Decreased skull ossification, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular ... OMIM:616897
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia ORPHA:469
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... ORPHA:228308
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Neonatal death OMIM:259775
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating creatinine concentration, Hepatomegaly, Elevated circulatin... OMIM:608836
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia ORPHA:405
Craniofaciofrontodigital Syndrome
Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P... ORPHA:363705
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Delayed epiphyseal ossification OMIM:613320
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Hypophosphatemia, Generalized oste... ORPHA:89936
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Pearson Syndrome
Hepatomegaly, Hypokalemia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Abnormal heart morpholo... ORPHA:699
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hepatomegaly, Hypokalemia, Reduced blood urea nitrogen, Decrea... OMIM:219800
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy ORPHA:268
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:614921
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ... OMIM:245600
Opsismodysplasia
Hypophosphatemia OMIM:258480
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis ORPHA:1517
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbili... ORPHA:14
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Hepatomegaly, Elevated circulating creatine kinase con... ORPHA:365
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia, Osteoporosis ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia, Osteoporosis ORPHA:143
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly ORPHA:2463
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Neonatal death, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Osteomalacia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic card... OMIM:252500
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Abnormal aortic valve morphology, Hepatomegaly, Craniofacial hypero... ORPHA:581
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardi... OMIM:618278
Liver Disease, Severe Congenital
Left atrial enlargement, Increased circulating ferritin concentration, Hepatomegaly, Hypocalcemia... OMIM:619991
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenome... OMIM:620376
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Williams Syndrome
Osteopenia, Abnormal endocardium morphology, Abnormal circulating lipid concentration, Cardiomega... ORPHA:904
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:256040
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Elevated... ORPHA:116
Yunis-Varon Syndrome
Absent sternal ossification, Cardiomyopathy, Decreased skull ossification, Tetralogy of Fallot, C... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Cardiomegaly, Abnormal calcification of the carpal bones, Ventricular h... ORPHA:51608
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Singleton-Merten Syndrome 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Osteoporosis, Mitral valve calcifica... 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 Smim8

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 Smim8.

No publications found that use IMPC mice or data for Smim8.

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
Smim8tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Smim8tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Smim8tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smim8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Smim8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Smim8tm47134(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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