Gene Summary

Name:
SIVA1, apoptosis-inducing factor
Synonyms:
CD27bp

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 fasting circulating glucose level Siva1tm1b(EUCOMM)Hmgu HOM Early adult 1.94×10-05
abnormal lens morphology Siva1tm1b(EUCOMM)Hmgu HOM   Early adult 1.66×10-06

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
Brain  Wholemount images homozygote 100% (2 of 2)
Heart  Wholemount images homozygote 100% (2 of 2)
Kidney  Wholemount images homozygote 100% (2 of 2)
Ovary  Wholemount images homozygote Not available
Pituitary gland  Wholemount images homozygote 100% (2 of 2)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Stomach  Wholemount images homozygote 100% (2 of 2)
Submandibular gland  Wholemount images homozygote 50% (1 of 2)
Testis  Wholemount images homozygote 50% (1 of 2)
Thyroid gland  Wholemount images homozygote 100% (2 of 2)
Urinary bladder  Wholemount images homozygote 0.0% (0 of 2)
Uterus  Wholemount images homozygote Not available
Vas deferens  Wholemount images homozygote 0.0% (0 of 2)
Vesicular gland  Wholemount images homozygote Not available
White adipose tissue  Wholemount images homozygote 50% (1 of 2)
Adrenal gland N/A homozygote 0.0% (0 of 2)
Aorta N/A homozygote 0.0% (0 of 2)
Blood N/A homozygote 0.0% (0 of 2)
Bone marrow N/A homozygote 0.0% (0 of 2)
Bone N/A homozygote 0.0% (0 of 2)
Brainstem N/A homozygote 0.0% (0 of 2)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A homozygote 0.0% (0 of 2)
Cecum N/A homozygote 0.0% (0 of 2)
Cerebellum N/A homozygote 0.0% (0 of 2)
Cerebral cortex N/A homozygote 0.0% (0 of 2)
Chest bone N/A homozygote 0.0% (0 of 2)
Colon N/A homozygote 0.0% (0 of 2)
Cranium N/A homozygote 0.0% (0 of 2)
Diaphragm N/A homozygote 0.0% (0 of 2)
Epididymis N/A homozygote Not available
Esophagus N/A homozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Gall bladder N/A homozygote 0.0% (0 of 2)
Harderian gland N/A homozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Hippocampus N/A homozygote 0.0% (0 of 2)
Hypothalamus N/A homozygote 0.0% (0 of 2)
Large intestine N/A homozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lower urinary tract N/A homozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Lymph node N/A homozygote 0.0% (0 of 2)
Main olfactory bulb N/A homozygote 0.0% (0 of 2)
Mammary gland N/A homozygote Not available
Mesenteric lymph node N/A homozygote 0.0% (0 of 2)
Olfactory lobe N/A homozygote 0.0% (0 of 2)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Oviduct N/A homozygote Not available
Pancreas N/A homozygote 0.0% (0 of 2)
Parathyroid gland N/A homozygote 0.0% (0 of 2)
Parotid gland N/A homozygote 0.0% (0 of 2)
Penis N/A homozygote Not available
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Prostate gland N/A homozygote Not available
Sciatic nerve N/A homozygote 0.0% (0 of 2)
Skeletal muscle N/A homozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Small intestine N/A homozygote 0.0% (0 of 2)
Spleen N/A homozygote 0.0% (0 of 2)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A homozygote 0.0% (0 of 2)
Sublingual gland N/A homozygote 0.0% (0 of 2)
Thymus N/A homozygote 0.0% (0 of 2)
Tongue N/A homozygote 0.0% (0 of 2)
Trachea N/A homozygote 0.0% (0 of 2)
Trigeminal V nerve N/A homozygote 0.0% (0 of 2)
Vagina N/A homozygote Not available
Vascular system N/A homozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

19 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Human diseases caused by Siva1 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 Siva1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma, Hyperinsulinemic hypoglycemia, Diabetes mellitus,... OMIM:147630
Trichomegaly
Cataract OMIM:190330
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Aniridia 2
Cataract, Aniridia OMIM:617141
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Hyperglycemia OMIM:615986
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient neonatal diabet... ORPHA:552
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298

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 Siva1

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 Siva1.

No publications found that use IMPC mice or data for Siva1.

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MGI Allele Allele Type Produced
Siva1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Siva1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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