Gene: Sbk1 MGI:2135937
Log in to followPhenotypes
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 total retina thickness | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 1.08×10-05 | ||
abnormal eye anterior chamber depth | Sbk1tm1b(EUCOMM)Wtsi | HOM | Early adult | 5.66×10-09 | ||
preweaning lethality, incomplete penetrance | Sbk1tm1b(EUCOMM)Wtsi | HOM | Early adult | 0.00 | ||
abnormal coat appearance | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 2.15×10-08 | ||
abnormal eye anterior chamber depth | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 5.06×10-07 | ||
abnormal skin coloration | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 4.70×10-06 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Brown adipose tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebellum | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 0.0% (0 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Vas deferens | Wholemount images | heterozygote | Not available |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brainstem | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cecum | N/A | heterozygote | 0.0% (0 of 1) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | Not available |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Hypothalamus | N/A | heterozygote | 0.0% (0 of 2) |
Large intestine | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Ovary | N/A | heterozygote | 0.0% (0 of 2) |
Oviduct | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Parathyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 2) |
Urinary bladder | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
White adipose tissue | 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 |
---|---|---|---|
Heart atrium | N/A | heterozygote | 100% (2 of 2) |
Axial skeleton | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Central nervous system ganglion | N/A | heterozygote | 100% (2 of 2) |
Cranium | N/A | heterozygote | 100% (2 of 2) |
Dorsal root ganglion | N/A | heterozygote | 100% (2 of 2) |
Ear | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Outer ear | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Femur pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Footplate | N/A | heterozygote | 100% (2 of 2) |
Forearm | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Fronto-nasal process | N/A | heterozygote | 100% (2 of 2) |
Gut | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 100% (2 of 2) |
Head mesenchyme | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Heart ventricle | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 100% (2 of 2) |
Hindbrain | N/A | heterozygote | 100% (2 of 2) |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Humerus pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Inner ear | N/A | heterozygote | 100% (2 of 2) |
Intestine | N/A | heterozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 100% (2 of 2) |
Lower leg | N/A | heterozygote | 100% (2 of 2) |
Lung | N/A | heterozygote | 100% (2 of 2) |
Mandibular process | N/A | heterozygote | 100% (2 of 2) |
Maxillary process | N/A | heterozygote | 100% (2 of 2) |
Mesonephros of female | N/A | heterozygote | 50% (1 of 2) |
Mesonephros of male | N/A | heterozygote | 50% (1 of 2) |
Metanephros | N/A | heterozygote | 100% (2 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Nasal septum | N/A | heterozygote | 100% (2 of 2) |
Nose | N/A | heterozygote | 100% (2 of 2) |
Notochord | N/A | heterozygote | 100% (2 of 2) |
Oral cavity | N/A | heterozygote | 100% (2 of 2) |
Outflow tract | N/A | heterozygote | 100% (2 of 2) |
Pancreas | N/A | heterozygote | 100% (2 of 2) |
N/A | heterozygote | 100% (2 of 2) | |
Pharynx | N/A | heterozygote | 100% (2 of 2) |
Radius-ulna pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Rib pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Skeleton | N/A | heterozygote | 100% (2 of 2) |
Skin | N/A | heterozygote | 100% (2 of 2) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Stomach | N/A | heterozygote | 100% (2 of 2) |
Tail somite | N/A | heterozygote | 100% (2 of 2) |
Tail | N/A | heterozygote | 100% (2 of 2) |
Thoracic vertebral cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Tongue | N/A | heterozygote | 100% (2 of 2) |
Trachea | N/A | heterozygote | 100% (2 of 2) |
Trunk mesenchyme | N/A | heterozygote | 100% (2 of 2) |
Umbilical artery embryonic part | N/A | heterozygote | 100% (2 of 2) |
Umbilical vein embryonic part | N/A | heterozygote | 100% (2 of 2) |
Upper arm | N/A | heterozygote | 100% (2 of 2) |
Upper leg | N/A | heterozygote | 100% (2 of 2) |
Urinary system | N/A | heterozygote | 100% (2 of 2) |
Vibrissa | N/A | heterozygote | 100% (2 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.0% |
aorta | 0.0% |
bone | 0.0% |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cecum | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
heart | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
kidney | 0.0% |
large intestine | 0.0% |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.0% |
lymph node | 0.0% |
mammary gland | 0.0% |
mesenteric lymph node | |
olfactory lobe | 0.0% |
oral epithelium | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
striatum | 0.0% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
trachea | 0.0% |
trigeminal v nerve | 0.0% |
urinary bladder | |
uterus | 0.0% |
vas deferens | Unavailable |
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) |
---|---|
atrium | Ambiguous |
axial skeleton | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
cranium | Ambiguous |
dorsal root ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
external ear | Ambiguous |
eye | 0.0% |
femur pre-cartilage condensation | Ambiguous |
footplate | 0.0% |
forearm | Ambiguous |
forebrain | 0.0% |
forelimb | 0.0% |
fronto-nasal process | Ambiguous |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
head mesenchyme | Ambiguous |
heart | 0.0% |
heart ventricle | Ambiguous |
hindbrain | 0.0% |
hindlimb | 0.0% |
humerus pre-cartilage condensation | Ambiguous |
inner ear | Ambiguous |
intestine | Ambiguous |
liver | 0.0% |
lower leg | Ambiguous |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
mesonephros of female | Ambiguous |
mesonephros of male | Ambiguous |
metanephros | Ambiguous |
midbrain | 0.0% |
nasal septum | Ambiguous |
nose | Ambiguous |
notochord | Ambiguous |
oral cavity | 0.0% |
outflow tract | Ambiguous |
pancreas | Ambiguous |
pericardium | Ambiguous |
pharynx | Ambiguous |
radius-ulna pre cartilage condensation | Ambiguous |
rib pre-cartilage condensation | Ambiguous |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
stomach | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
thoracic vertebral cartilage condensation | Ambiguous |
tongue | Ambiguous |
trachea | Ambiguous |
trunk mesenchyme | Ambiguous |
umbilical artery embryonic part | Ambiguous |
umbilical vein embryonic part | Ambiguous |
upper arm | Ambiguous |
upper leg | Ambiguous |
urinary system | Ambiguous |
vibrissa | Ambiguous |
Human diseases caused by Sbk1 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 predicted to be associated to Sbk1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities | Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract | OMIM:300719 | |
Dilution, Pigmentary | Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... | OMIM:126070 | |
Yemenite Deaf-Blind Hypopigmentation Syndrome | Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... | OMIM:601706 | |
Vitreoretinal Degeneration, Snowflake Type | Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... | OMIM:193230 |
Order Mouse and ES Cells
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Sbk1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Sbk1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Sbk1tm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
The IMPC Newsletter
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter