Gene: Sp5 MGI:1927715

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Gene Summary

Name:
trans-acting transcription factor 5
Synonyms:
N/A

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 vertical activity Sp5tm1b(KOMP)Wtsi HOM Late adult 2.46×10-08
hyperactivity Sp5tm1b(KOMP)Wtsi HOM Late adult 1.23×10-10
hyperactivity Sp5tm1b(KOMP)Wtsi HOM Early adult 2.81×10-05
decreased fasting circulating glucose level Sp5tm1b(KOMP)Wtsi HOM Early adult 8.04×10-07
increased grip strength Sp5tm1b(KOMP)Wtsi HOM Late adult 1.57×10-05

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  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 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)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Uterus  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 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 Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

16 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Forepaw

19 Images

Adult LacZ

LacZ Images Section

25 Images

Sleep Wake

Wake state (bmp file)

11 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

12 Images

Human diseases caused by Sp5 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 Sp5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
OMIM:143465
Mental Retardation, Autosomal Recessive 54
OMIM:617028
Schizophrenia 15
OMIM:613950
Mental Retardation, Autosomal Dominant 45
OMIM:617600
Mental Retardation, Autosomal Recessive 2
OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
DECIPHER:20
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
OMIM:301008
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
DECIPHER:19
Mental Retardation, Autosomal Recessive 3
OMIM:608443
Autism, Susceptibility To, 20
OMIM:618830
Immunodeficiency 8
OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
OMIM:618351
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
OMIM:245570
Developmental And Epileptic Encephalopathy 43
OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
OMIM:309548
Mental Retardation, Autosomal Dominant 52
OMIM:617796
Mental Retardation, Autosomal Dominant 33
OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
OMIM:617787
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
ORPHA:35701
Intellectual Developmental Disorder, X-Linked 72
OMIM:300271
Mental Retardation, Autosomal Recessive 37
OMIM:615493
Hyperinsulinemic Hypoglycemia, Familial, 7
OMIM:610021
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
OMIM:616657
Mental Retardation, X-Linked 77
OMIM:300454
Sotos Syndrome 3
OMIM:617169
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
ORPHA:356996
Intellectual Developmental Disorder, X-Linked 101
OMIM:300928
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
ORPHA:436151
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
OMIM:204750
Glycogen Storage Disease 0, Liver
OMIM:240600
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
OMIM:617182
Smith-Magenis syndrome
DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
OMIM:613402
Hyperinsulinism-Hyperammonemia Syndrome
ORPHA:35878
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
OMIM:618090
Insulin-Like Growth Factor I Deficiency
OMIM:608747
Intellectual Developmental Disorder, X-Linked 107
OMIM:301013
Aminoacylase 1 Deficiency
OMIM:609924
8p23.1 deletion syndrome
DECIPHER:39
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
OMIM:617384
Encephalopathy, Progressive, With Or Without Lipodystrophy
OMIM:615924
X-Linked Intellectual Disability, Stocco Dos Santos Type
ORPHA:85288
Hyperprolinemia, Type I
OMIM:239500
Juvenile Huntington Disease
ORPHA:248111
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
OMIM:604317
Glycine Encephalopathy
OMIM:605899
Mannosidosis, Beta A, Lysosomal
OMIM:248510
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
OMIM:188570
Intellectual Developmental Disorder, X-Linked 104
OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
OMIM:274270
Fraxe Intellectual Disability
ORPHA:100973
Mental Retardation, Autosomal Recessive 39
OMIM:615541
Hyperlysinemia, Type I
OMIM:238700
Mental Retardation, Autosomal Dominant 43
OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
OMIM:300434
Xq25 Microduplication Syndrome
ORPHA:521258
Xq25 Duplication Syndrome
OMIM:300979
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
OMIM:612716
Coffin-Siris Syndrome 8
OMIM:618362
Chromosome 3Q29 Deletion Syndrome
OMIM:609425
Lennox-Gastaut Syndrome
ORPHA:2382
Alazami-Yuan Syndrome
OMIM:617126
Optic Atrophy 11
OMIM:617302
Intellectual Developmental Disorder, X-Linked 30
OMIM:300558
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
OMIM:618342
Histidinemia
ORPHA:2157
Phenylketonuria
OMIM:261600
Guanidinoacetate Methyltransferase Deficiency
ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
ORPHA:411515
Gand Syndrome
OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 71
OMIM:618504
Mental Retardation, Autosomal Recessive 61
OMIM:617773
Severe Neurodegenerative Syndrome With Lipodystrophy
ORPHA:363400
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616
Clark-Baraitser Syndrome
OMIM:617752
Mental Retardation, Autosomal Recessive 13
OMIM:613192
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
OMIM:617865
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
ORPHA:457260
Mental Retardation, Autosomal Recessive 38
OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
OMIM:618718
Landau-Kleffner Syndrome
ORPHA:98818
Cln5 Disease
ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
ORPHA:3077
Rubinstein-Taybi Syndrome 2
OMIM:613684
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
OMIM:271980
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
OMIM:615824
Chromosome 15Q25 Deletion Syndrome
OMIM:614294
Graves Disease, Susceptibility To, 1
OMIM:275000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
ORPHA:397973
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
OMIM:615286
Intellectual Developmental Disorder, X-Linked 21
OMIM:300143
Rasmussen Subacute Encephalitis
ORPHA:1929
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
ORPHA:73272
Fragile X Syndrome
OMIM:300624
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
OMIM:300958
Intellectual Developmental Disorder, X-Linked 98
OMIM:300912
Hypomagnesemia, Seizures, And Mental Retardation 2
OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
ORPHA:101039
X-Linked Creatine Transporter Deficiency
ORPHA:52503
Myoclonic-Astatic Epilepsy
ORPHA:1942
Acrodysostosis 2 With Or Without Hormone Resistance
OMIM:614613
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
ORPHA:369939
Hyperthyroidism, Nonautoimmune
OMIM:609152
Neurodevelopmental Disorder With Or Without Autism Or Seizures
OMIM:619239
Mental Retardation, Autosomal Dominant 7
OMIM:614104
Mend Syndrome
OMIM:300960
Lamb-Shaffer Syndrome
ORPHA:530983
Infantile Neuroaxonal Dystrophy
ORPHA:35069
2Q23.1 Microdeletion Syndrome
ORPHA:228402
Pitt-Hopkins-Like Syndrome 1
OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
OMIM:610217
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
ORPHA:457485
X-Linked Adrenoleukodystrophy
ORPHA:43
Mucopolysaccharidosis, Type Iiia
OMIM:252900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
ORPHA:391307
Late Infantile Neuronal Ceroid Lipofuscinosis
ORPHA:168491
Spastic Paraplegia 29, Autosomal Dominant
OMIM:609727
Adenylosuccinase Deficiency
OMIM:103050
Mucopolysaccharidosis, Type Iiib
OMIM:252920
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
ORPHA:98794
X-Linked Cerebral Adrenoleukodystrophy
ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
OMIM:300486
Symptomatic Form Of Fragile X Syndrome In Female Carrier
ORPHA:449291
47,Xyy Syndrome
ORPHA:8
Angelman Syndrome
OMIM:105830
Purine Nucleoside Phosphorylase Deficiency
ORPHA:760
Mucopolysaccharidosis, Type Iiic
OMIM:252930
Glass Syndrome
OMIM:612313
Familial Gestational Hyperthyroidism
ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1
OMIM:234200
Insensitivity To Pain, Congenital, With Anhidrosis
OMIM:256800
Argininemia
OMIM:207800
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
OMIM:614756
Choreoacanthocytosis
ORPHA:2388

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 Sp5

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 Sp5.

No publications found that use IMPC mice or data for Sp5.

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MGI Allele Allele Type Produced
Sp5tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sp5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sp5tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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