Gene Summary

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

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 circulating aspartate transaminase level Spoptm1b(KOMP)Wtsi HET Early adult 7.78×10-05
enlarged lymph nodes Spoptm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Spoptm1b(KOMP)Wtsi HOM   Early adult 0.00
small adrenal glands Spoptm1b(KOMP)Wtsi HET Early adult 0.00
decreased respiratory quotient Spoptm1b(KOMP)Wtsi HET Early adult 7.17×10-07
small thymus Spoptm1b(KOMP)Wtsi HET 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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Viewing: all phenotypes

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 0.0%
brain 1.05% (3 of 285)
central nervous system ganglion 0.0%
ear 0.33% (1 of 303)
embryo 0.0%
eye 0.33% (1 of 304)
footplate 0.0%
forebrain 0.34% (1 of 297)
forelimb 0.0%
gut 0.0%
handplate 0.0%
head 1.04% (3 of 289)
heart 0.0%
hindbrain 2.01% (6 of 299)
hindlimb 0.0%
liver 0.33% (1 of 306)
lung 0.34% (1 of 296)
mandibular process 0.0%
maxillary process 0.33% (1 of 301)
midbrain 0.0%
nose 0.0%
oral cavity 0.0%
skeleton 2.38% (1 of 42)
skin 0.0%
spinal cord 2.27% (1 of 44)
tail 0.0%
tail somite group 0.0%
trachea 3.03% (1 of 33)
urinary system 2.94% (1 of 34)

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

Embryo LacZ

LacZ images wholemount

90 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

MicroCT E14.5-E15.5

Embryo reconstruction

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

Eye Morphology

Images Slit Lamp

2 Images

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
Prolonged neonatal jaundice 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
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
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
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortica... ORPHA:403
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Hypogonadism, Diabetes mellitus, Congenital hepatic... ORPHA:79230
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Familial Hyperaldosteronism Type Ii
Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, G... ORPHA:404
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-i... ORPHA:231580
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensit... ORPHA:251274
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:276608
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276575
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology ORPHA:482
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276580
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... OMIM:615830
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Diffuse... ORPHA:276556
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Elevate... OMIM:202010
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... ORPHA:189427
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Thrombocytopenia, Congenital adrenal hyperp... ORPHA:96181
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... ORPHA:786
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fib... OMIM:246200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating follicle stimulating hormone level, Decreased circulating androgen concentra... ORPHA:95699
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Reduced pancreatic beta cells, Hepatomegaly, Insulin-resistant diabetes... OMIM:226980
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopenia, Leukocyt... ORPHA:96253
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Agammaglobulinemia, X-Linked
B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia OMIM:300755
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitus ORPHA:99885
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pancreatic islet-cell hyperplasia OMIM:276700
Perlman Syndrome
Pancreatic islet-cell hyperplasia OMIM:267000
Greenberg Dysplasia
Hepatic calcification, Pancreatic islet-cell hyperplasia, Hepatomegaly, Hepatosplenomegaly OMIM:215140
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hepatoblastoma, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia ORPHA:373
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hepatoblastoma, Splenomegaly, Pancreatic islet-cell hyperplasia, Patent ductus arte... OMIM:312870
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Nabais Sa-De Vries Syndrome, Type 1
Prolonged neonatal jaundice 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 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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
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