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Gene: Smyd5 MGI:108048

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Gene Summary

Name:
SET and MYND domain containing 5
Synonyms:
Rai15,  NN8-4AG,  Rrg1

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Smyd5tm1e(EUCOMM)Wtsi HOM Early adult 6.04×10-05
abnormal bone mineralization Smyd5tm1e(EUCOMM)Wtsi HOM Early adult 1.63×10-06
abnormal gait Smyd5tm1e(EUCOMM)Wtsi HOM   Early adult 8.94×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 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 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

View images
Legacy Phenotype Associated Images
Smyd5tm1e(EUCOMM)Wtsi
head, WT, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
body, WT, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
body, WT, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
head, HOM, Female, WTSI

View all 224 images

Smyd5tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Smyd5tm1a(EUCOMM)Wtsi
increased retrosplenial granular cortex size, HOM, Male, WTSI
Smyd5tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Smyd5tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Smyd5tm1a(EUCOMM)Wtsi
increased retrosplenial granular cortex size, HOM, Male, WTSI

View all 6 images

Smyd5tm1e(EUCOMM)Wtsi
eye, cataracts, HOM, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
eye, corneal opacity, HOM, Male, WTSI
Smyd5tm1e(EUCOMM)Wtsi
eye, corneal opacity, cataracts, HOM, Male, WTSI
Smyd5tm1e(EUCOMM)Wtsi
eye, corneal opacity, cornea/lens fusion, HOM, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
eye, corneal opacity, cataracts, HOM, Female, WTSI

View all 6 images

Smyd5tm1e(EUCOMM)Wtsi
brachydactyly, HOM, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
brachydactyly, HOM, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
brachydactyly, HOM, Female, WTSI
Smyd5tm1e(EUCOMM)Wtsi
tail, HOM, Female, WTSI
Smyd5tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Smyd5tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Smyd5 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 Smyd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... OMIM:600081
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic f... ORPHA:157215
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Gait disturbance, Abnormal bone structu... ORPHA:93160
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... OMIM:241530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Ataxia, Rickets OMIM:560000
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets OMIM:611590
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Cystinosis
Failure to thrive, Rickets, Gait disturbance ORPHA:213
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Fibrous dysplasia of the bo... ORPHA:249
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Celiac Disease, Susceptibility To, 1
Ataxia, Osteoporosis, Rickets, Weight loss, Failure to thrive OMIM:212750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia, Weight loss ORPHA:309031
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Rickets ORPHA:79303
Fanconi-Bickel Syndrome
Osteopenia, Failure to thrive, Rickets ORPHA:2088
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Fanconi-Bickel Syndrome
Failure to thrive, Rickets, Osteomalacia OMIM:227810
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... ORPHA:18
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Failu... OMIM:613658
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... ORPHA:198
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Wilson Disease
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility OMIM:277900
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia, Weight loss ORPHA:3337
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Camptodactyly of finger, Rickets, Pathologic fracture, Joint con... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Joint hyperflexibility, Arthritis, Failure to... ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Cystinosis, Nephropathic
Hypophosphatemic rickets, Failure to thrive in infancy, Rickets, Weight loss OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia, Weight loss OMIM:619381
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer... 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 Smyd5

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 Smyd5.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Epithelial SMYD5 Exaggerates IBD by Down-regulating Mitochondrial Functions via Post-Translational Control of PGC-1α Stability. Cellular and molecular gastroenterology and hepatology (May 2022) Smyd5tm1c(EUCOMM)Wtsi Smyd5tm1a(EUCOMM)Wtsi PMC9249919
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Smyd5tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Smyd5tm1a(EUCOMM)Wtsi Smyd5tm1e(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Smyd5tm1a(EUCOMM)Wtsi Smyd5tm1a(EUCOMM)Wtsi PMC6459510
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. Nucleic acids research (December 2017) Smyd5tm1a(EUCOMM)Wtsi PMC5716182
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Smyd5tm1a(EUCOMM)Wtsi Smyd5tm1a(EUCOMM)Wtsi PMC5827107
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Smyd5tm1a(EUCOMM)Wtsi PMC3745610

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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
Smyd5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice, ES Cells
Smyd5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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