Gene Summary

Name:
spindle and centriole associated protein 1
Synonyms:
D16Ertd480e,  Ccdc52

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 circulating alkaline phosphatase level Spice1tm1b(EUCOMM)Hmgu HOM Early adult 3.64×10-07
increased red blood cell distribution width Spice1tm1b(EUCOMM)Hmgu HOM Early adult 2.19×10-06

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
 Wholemount images heterozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote Not available
N/A homozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A homozygote Not available
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)

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)
bone 0.0%
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)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 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%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
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)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 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)
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)
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)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
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.

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Spice1 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 Spice1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Decreased serum iron, Anisocytosis, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... ORPHA:79277

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 Spice1

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 Spice1.

No publications found that use IMPC mice or data for Spice1.

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MGI Allele Allele Type Produced
Spice1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Spice1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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