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 | ||
| hyperactivity | Sbk1tm1b(EUCOMM)Wtsi | HOM | Early adult | 3.10×10-05 | ||
| abnormal eye anterior chamber depth | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 5.06×10-07 | ||
| abnormal skin coloration | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 2.44×10-06 | ||
| abnormal coat appearance | Sbk1tm1b(EUCOMM)Wtsi | HET | Early adult | 2.82×10-08 | ||
| 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 |
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 | 0.67% (4 of 598) |
| aorta | 0.17% (1 of 598) |
| bone | 0.0% |
| brain | 0.84% (5 of 598) |
| brainstem | 0.33% (2 of 598) |
| brown adipose tissue | 0.0% |
| cartilage tissue | 0.17% (1 of 598) |
| cecum | 5.73% (22 of 384) |
| cerebellum | 0.5% (3 of 598) |
| cerebral cortex | 0.33% (2 of 598) |
| esophagus | 1.66% (7 of 422) |
| eye | 0.0% |
| gall bladder | 0.0% |
| heart | 0.33% (2 of 598) |
| hippocampus | 0.5% (3 of 598) |
| hypothalamus | 0.33% (2 of 598) |
| kidney | 4.52% (27 of 598) |
| large intestine | 5.35% (32 of 598) |
| liver | 0.0% |
| lower urinary tract | 0.17% (1 of 598) |
| lung | 0.33% (2 of 598) |
| lymph node | 0.17% (1 of 598) |
| mammary gland | 0.0% |
| mesenteric lymph node | 0.31% (1 of 323) |
| olfactory lobe | 0.33% (2 of 598) |
| oral epithelium | 0.0% |
| ovary | 0.17% (1 of 598) |
| oviduct | 0.0% |
| pancreas | 0.84% (5 of 598) |
| parathyroid gland | 0.17% (1 of 576) |
| peripheral nervous system | 0.33% (2 of 598) |
| peyers patch | 0.0% |
| pituitary gland | 0.17% (1 of 598) |
| prostate gland | 2.17% (13 of 598) |
| skeletal muscle | 0.0% |
| skin | 0.17% (1 of 598) |
| small intestine | 5.35% (32 of 598) |
| spinal cord | 0.5% (3 of 598) |
| spleen | 0.5% (3 of 598) |
| stomach | 3.68% (22 of 598) |
| striatum | 0.5% (3 of 598) |
| testis | 1% (6 of 598) |
| thymus | 0.17% (1 of 598) |
| thyroid gland | 3.01% (18 of 598) |
| trachea | 0.5% (3 of 598) |
| trigeminal v nerve | 0.0% |
| urinary bladder | 0.0% |
| uterus | 0.33% (2 of 598) |
| vas deferens | 4.56% (18 of 395) |
| 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 | 1.67% (1 of 60) |
| axial skeleton | 1.56% (1 of 64) |
| brain | 1.17% (6 of 511) |
| central nervous system ganglion | 1.37% (1 of 73) |
| cranium | 1.56% (1 of 64) |
| dorsal root ganglion | 1.67% (1 of 60) |
| ear | 0.2% (1 of 511) |
| embryo | 0.39% (2 of 512) |
| external ear | 1.35% (1 of 74) |
| eye | 0.2% (1 of 511) |
| femur pre-cartilage condensation | 1.82% (1 of 55) |
| footplate | 0.2% (1 of 511) |
| forearm | 0.33% (1 of 305) |
| forebrain | 0.2% (1 of 511) |
| forelimb | 0.2% (1 of 511) |
| fronto-nasal process | 1.64% (1 of 61) |
| gut | 1.69% (1 of 59) |
| handplate | 0.2% (1 of 511) |
| head | 0.98% (5 of 511) |
| head mesenchyme | 1.67% (1 of 60) |
| heart | 0.2% (1 of 511) |
| heart ventricle | 1.67% (1 of 60) |
| hindbrain | 1.17% (6 of 511) |
| hindlimb | 0.2% (1 of 511) |
| humerus pre-cartilage condensation | 1.56% (1 of 64) |
| inner ear | 1.56% (1 of 64) |
| intestine | 1.72% (1 of 58) |
| liver | 0.2% (1 of 506) |
| lower leg | 0.33% (1 of 305) |
| lung | 0.2% (1 of 506) |
| mandibular process | 0.2% (1 of 511) |
| maxillary process | 0.2% (1 of 511) |
| mesonephros of female | 1.82% (1 of 55) |
| mesonephros of male | 1.82% (1 of 55) |
| metanephros | 1.82% (1 of 55) |
| midbrain | 0.2% (1 of 511) |
| nasal septum | 1.67% (1 of 60) |
| nose | 1.28% (1 of 78) |
| notochord | 1.67% (1 of 60) |
| oral cavity | 0.2% (1 of 506) |
| outflow tract | 1.67% (1 of 60) |
| pancreas | 1.82% (1 of 55) |
| pericardium | 1.82% (1 of 55) |
| pharynx | 1.79% (1 of 56) |
| radius-ulna pre cartilage condensation | 1.56% (1 of 64) |
| rib pre-cartilage condensation | 1.75% (1 of 57) |
| skeleton | 1.28% (1 of 78) |
| skin | 0.2% (1 of 511) |
| spinal cord | 1.39% (1 of 72) |
| stomach | 1.82% (1 of 55) |
| tail | 0.2% (1 of 511) |
| tail somite group | 0.2% (1 of 511) |
| thoracic vertebral cartilage condensation | 1.82% (1 of 55) |
| tongue | 1.82% (1 of 55) |
| trachea | 1.69% (1 of 59) |
| trunk mesenchyme | 1.67% (1 of 60) |
| umbilical artery embryonic part | 1.67% (1 of 60) |
| umbilical vein embryonic part | 1.67% (1 of 60) |
| upper arm | 0.33% (1 of 305) |
| upper leg | 0.33% (1 of 305) |
| urinary system | 1.69% (1 of 59) |
| vibrissa | 1.35% (1 of 74) |
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.
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| 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, Tissue |
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