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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

Order Alleles

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:
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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 Whole Body Dorso Ventral

15 Images

View images
X-ray

XRay Images Skull Lateral Orientation

13 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 Dorso Ventral Orientation

14 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
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trab... OMIM:600081
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Waddling gait, Pathologic f... ORPHA:157215
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Gait disturbance, Coarse metaphyseal trabecularization, Osteo... ORPHA:93160
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Difficulty walking, Hypophosphatemic rickets, Delayed epiphyseal ossification, Failure t... OMIM:241530
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Failure to thrive, Ataxia, Osteoporosis OMIM:560000
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Difficulty walking, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trab... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Difficulty walking, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trab... OMIM:277440
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Waddling gait, Osteoarthritis, Osteomalacia OMIM:307800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive OMIM:611590
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Joint stiffness, Failure to thrive, Camptodactyly of finger, Osteomalac... ORPHA:2176
Cystinosis
Rickets, Failure to thrive, Gait disturbance ORPHA:213
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Difficulty walking, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trab... ORPHA:289157
Fibrous Dysplasia Of Bone
Rickets, Difficulty walking, Osteomalacia, Abnormal bone structure, Cortical irregularity, Thin b... ORPHA:249
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteomalacia, Osteoporosis, Joint stiffness, Joint hypermobility ORPHA:1901
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... OMIM:300009
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive OMIM:607765
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Celiac Disease, Susceptibility To, 1
Rickets, Osteoporosis, Failure to thrive, Ataxia, Weight loss 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, Osteomalacia, Osteoporosis, Weight loss ORPHA:309031
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive ORPHA:79303
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Osteopenia ORPHA:2088
Neu-Laxova Syndrome
Rickets, Osteopenia, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis multiplex co... ORPHA:2671
Dent Disease
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... ORPHA:1652
Mccune-Albright Syndrome
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Monostotic fibrous dysplasia, Osteomalacia, ... ORPHA:562
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Osteomalacia OMIM:227810
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Failure to thrive, Osteomalacia, Increased susceptibility ... ORPHA:18
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Failure to thrive, Slender build, Joint hyperm... OMIM:613658
Occipital Horn Syndrome
Rickets, Osteopenia, Osteomalacia, Synostosis of joints, Osteoporosis, Joint hypermobility, Osteo... ORPHA:198
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive ORPHA:411629
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Weight loss, Increased susceptibility to fractures ORPHA:3337
Lowe Oculocerebrorenal Syndrome
Rickets, Pathologic fracture, Osteomalacia, Failure to thrive, Camptodactyly of finger, Joint hyp... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Arthritis, Osteomalacia, Joint stiffness, Failure to thrive, Joint hypermobility, Recurrent fract... ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis, Osteomalacia ORPHA:2636
Wilson Disease
Joint hypermobility, Osteomalacia, Osteoarthritis, Osteoporosis OMIM:277900
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Failure to thrive, Weight loss, Failure to thrive in infancy OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Arthritis, Osteomyelitis, Weight loss OMIM:619381
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Hypomagnesemia 3, Renal
Rickets, Failure to thrive OMIM:248250
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, O... 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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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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