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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
decreased respiratory quotient Spoptm1b(KOMP)Wtsi HET Early adult 7.17×10-07
small thymus Spoptm1b(KOMP)Wtsi HET Early adult 0.00
small adrenal glands Spoptm1b(KOMP)Wtsi HET Early adult 0.00
decreased prepulse inhibition Spoptm1b(KOMP)Wtsi HET Early adult 1.09×10-07
increased circulating aspartate transaminase level Spoptm1b(KOMP)Wtsi HET Early adult 8.13×10-05
decreased grip strength Spoptm1b(KOMP)Wtsi HET Early adult 9.11×10-05
enlarged lymph nodes Spoptm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Spoptm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased food intake Spoptm1b(KOMP)Wtsi HET Early adult 2.95×10-05

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 Hind Leg and Hip

16 Images

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Embryo LacZ

LacZ images wholemount

90 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

11 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Gross Pathology and Tissue Collection

Images

8 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
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:610021
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Diaphragmatic Hernia 5, X-Linked
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
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia 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
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... ORPHA:404
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-i... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:276608
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensit... ORPHA:251274
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... ORPHA:276575
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Hyperinsulinem... ORPHA:276556
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
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Thrombocyto... ORPHA:96181
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Incr... OMIM:613179
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content, Hyperhid... ORPHA:263455
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperp... OMIM:246200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... OMIM:226980
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... 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, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Pancreatic hypoplasia ORPHA:99885
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Tyrosinemia, Type I
Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma OMIM:276700
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification OMIM:215140
Perlman Syndrome
Pancreatic islet-cell hyperplasia OMIM:267000
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Thrombocytosis ORPHA:79500
Simpson-Golabi-Behmel Syndrome
Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatoblastoma, Hepatomegaly ORPHA:373
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatoblastoma, Hepatomegaly, Paten... 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 17 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ptch1 is essential for cochlear marginal cell differentiation and stria vascularis formation. Cell reports (April 2024) Spoptm1c(KOMP)Wtsi 38602877
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