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Gene: Spop MGI:1343085

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Gene Summary

Name:
speckle-type BTB/POZ protein
Synonyms:
TEF2

Order Alleles

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
enlarged lymph nodes Spoptm1b(KOMP)Wtsi HET Early adult 0.00
decreased food intake Spoptm1b(KOMP)Wtsi HET Early adult 2.95×10-05
small adrenal glands Spoptm1b(KOMP)Wtsi HET Early adult 0.00
decreased grip strength Spoptm1b(KOMP)Wtsi HET Early adult 9.23×10-05
decreased prepulse inhibition Spoptm1b(KOMP)Wtsi HET Early adult 1.08×10-07
small thymus Spoptm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Spoptm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased respiratory quotient Spoptm1b(KOMP)Wtsi HET Early adult 7.17×10-07
increased circulating aspartate transaminase level Spoptm1b(KOMP)Wtsi HET Early adult 7.97×10-05

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 25% (2 of 8)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 25% (2 of 8)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (8 of 8)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 25% (2 of 8)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 8)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 25% (2 of 8)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 25% (2 of 8)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 8)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 8)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 25% (2 of 8)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 25% (2 of 8)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 25% (2 of 8)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 8)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 25% (2 of 8)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 25% (2 of 8)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 8)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 25% (2 of 8)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 25% (2 of 8)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 8)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 25% (2 of 8)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 8)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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 Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Embryo LacZ

LacZ images wholemount

90 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Human diseases caused by Spop 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.

The table below shows human diseases associated to Spop by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior OMIM:618828

The table below shows human diseases predicted to be associated to Spop by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:610021
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... ORPHA:231580
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:276608
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemi... ORPHA:276575
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... ORPHA:369929
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellit... ORPHA:276580
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, Excessive insulin response t... ORPHA:276556
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... OMIM:202010
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... ORPHA:90790
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... ORPHA:96181
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemi... ORPHA:263455
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp... OMIM:246200
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinoma OMIM:276700
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells ORPHA:99885
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Perlman Syndrome
Pancreatic islet-cell hyperplasia OMIM:267000
Doors Syndrome
Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatoblastoma ORPHA:373
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Pancreatic islet-cell hyperplasia, Polysple... OMIM:312870
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior OMIM:618828

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 Spop

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 Spop.

There are 16 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sufu- and Spop-mediated regulation of Gli2 is essential for the control of mammalian cochlear hair cell differentiation. Proceedings of the National Academy of Sciences of the United States of America (October 2022) Spoptm1c(KOMP)Wtsi PMC9618052
A phospho-tyrosine-based signaling module using SPOP, CSK, and LYN controls TLR-induced IRF activity. Science advances (July 2022) Spoptm1a(KOMP)Mbp PMC9269885
CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage. The Prostate (October 2020) Spoptm1c(KOMP)Wtsi Spoptm1a(KOMP)Wtsi Spoptm1b(KOMP)Wtsi 33022763
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Spopltm1a(EUCOMM)Wtsi PMC7263671
Hedgehog-Activated Fat4 and PCP Pathways Mediate Mesenchymal Cell Clustering and Villus Formation in Gut Development. Developmental cell (March 2020) Spoptm1c(KOMP)Wtsi 32155439
Sufu- and Spop-mediated downregulation of Hedgehog signaling promotes beta cell differentiation through organ-specific niche signals. Nature communications (October 2019) Spoptm1a(KOMP)Wtsi PMC6789033
The E3 ubiquitin ligase SPOP controls resolution of systemic inflammation by triggering MYD88 degradation. Nature immunology (August 2019) Spoptm1a(KOMP)Wtsi PMC7376385
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Spopltm1a(EUCOMM)Wtsi PMC6671969
GLI2 Modulated by SUFU and SPOP Induces Intestinal Stem Cell Niche Signals in Development and Tumorigenesis. Cell reports (June 2019) Spoptm1c(KOMP)Wtsi 31167144
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Spopltm1a(EUCOMM)Wtsi PMC6459510
Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma. Developmental cell (December 2018) Spoptm1c(KOMP)Wtsi 30554998
Uterine function in the mouse requires speckle-type poz protein. Biology of reproduction (June 2018) Spoptm1c(KOMP)Wtsi Spoptm1a(KOMP)Wtsi 29546395
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Spopltm1a(EUCOMM)Wtsi