An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
| Anatomy | Images | Zygosity | Mutant Expr |
|---|---|---|---|
| Adrenal gland | Wholemount images | heterozygote | 100% (2 of 2) |
| Aorta | Wholemount images | heterozygote | 100% (2 of 2) |
| Bone | Wholemount images | heterozygote | 100% (2 of 2) |
| Brain | Wholemount images | heterozygote | 100% (2 of 2) |
| Brainstem | Wholemount images | heterozygote | 100% (2 of 2) |
| Brown adipose tissue | Wholemount images | heterozygote | 50% (1 of 2) |
| Cartilage 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) |
| Esophagus | Wholemount images | heterozygote | 100% (2 of 2) |
| Eye | Wholemount images | heterozygote | 100% (2 of 2) |
| Gall bladder | Wholemount images | heterozygote | 100% (2 of 2) |
| Heart | Wholemount images | heterozygote | 100% (2 of 2) |
| Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
| Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
| Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
| Large intestine | Wholemount images | heterozygote | 100% (2 of 2) |
| Liver | Wholemount images | heterozygote | 100% (2 of 2) |
| Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
| Lung | Wholemount images | heterozygote | 100% (2 of 2) |
| Lymph node | Wholemount images | heterozygote | 100% (2 of 2) |
| Mammary gland | Wholemount images | heterozygote | 50% (1 of 2) |
| Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
| Ovary | Wholemount images | heterozygote | 50% (1 of 2) |
| Oviduct | Wholemount images | heterozygote | 50% (1 of 2) |
| Pancreas | Wholemount images | heterozygote | 100% (2 of 2) |
| Parathyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
| Peripheral nervous system | Wholemount images | heterozygote | 100% (2 of 2) |
| Peyer's patch | Wholemount images | heterozygote | 100% (2 of 2) |
| Pituitary gland | Wholemount images | heterozygote | 100% (2 of 2) |
| Prostate gland | Wholemount images | heterozygote | 50% (1 of 2) |
| Skeletal muscle | Wholemount images | heterozygote | 100% (2 of 2) |
| Skin | Wholemount images | heterozygote | 100% (2 of 2) |
| Small intestine | Wholemount images | heterozygote | 100% (2 of 2) |
| Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
| Spleen | Wholemount images | heterozygote | 100% (2 of 2) |
| Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
| Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
| Testis | Wholemount images | heterozygote | 50% (1 of 2) |
| Thymus | Wholemount images | heterozygote | 100% (2 of 2) |
| Thyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
| Trachea | Wholemount images | heterozygote | 100% (2 of 2) |
| Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
| Vascular system | Wholemount images | heterozygote | 100% (2 of 2) |
| White adipose tissue | Wholemount images | heterozygote | 100% (2 of 2) |
| Oral epithelium | 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 |
|---|---|---|---|
| Brain | N/A | heterozygote | 100% (2 of 2) |
| Brain | N/A | homozygote | 100% (3 of 3) |
| Ear | N/A | heterozygote | 50% (1 of 2) |
| Ear | N/A | homozygote | 33.33% (1 of 3) |
| Embryo | N/A | heterozygote | 100% (2 of 2) |
| Embryo | N/A | homozygote | 100% (3 of 3) |
| Eye | N/A | heterozygote | 100% (2 of 2) |
| Eye | N/A | homozygote | 100% (3 of 3) |
| Footplate | N/A | heterozygote | 100% (2 of 2) |
| Footplate | N/A | homozygote | 100% (3 of 3) |
| Forebrain | N/A | heterozygote | 100% (2 of 2) |
| Forebrain | N/A | homozygote | 100% (3 of 3) |
| Forelimb | N/A | heterozygote | 100% (2 of 2) |
| Forelimb | N/A | homozygote | 100% (3 of 3) |
| Handplate | N/A | heterozygote | 100% (2 of 2) |
| Handplate | N/A | homozygote | 100% (3 of 3) |
| Head | N/A | heterozygote | 100% (2 of 2) |
| Head | N/A | homozygote | 100% (3 of 3) |
| Heart | N/A | heterozygote | 50% (1 of 2) |
| Heart | N/A | homozygote | 33.33% (1 of 3) |
| Hindbrain | N/A | heterozygote | 100% (2 of 2) |
| Hindbrain | N/A | homozygote | 100% (3 of 3) |
| Hindlimb | N/A | heterozygote | 100% (2 of 2) |
| Hindlimb | N/A | homozygote | 100% (3 of 3) |
| Liver | N/A | heterozygote | 50% (1 of 2) |
| Liver | N/A | homozygote | 33.33% (1 of 3) |
| Lung | N/A | heterozygote | 50% (1 of 2) |
| Lung | N/A | homozygote | 33.33% (1 of 3) |
| Mandibular process | N/A | heterozygote | 50% (1 of 2) |
| Mandibular process | N/A | homozygote | 33.33% (1 of 3) |
| Maxillary process | N/A | heterozygote | 50% (1 of 2) |
| Maxillary process | N/A | homozygote | 33.33% (1 of 3) |
| Midbrain | N/A | heterozygote | 100% (2 of 2) |
| Midbrain | N/A | homozygote | 100% (3 of 3) |
| Oral cavity | N/A | heterozygote | 50% (1 of 2) |
| Oral cavity | N/A | homozygote | 33.33% (1 of 3) |
| Skin | N/A | heterozygote | 50% (1 of 2) |
| Skin | N/A | homozygote | 33.33% (1 of 3) |
| Tail somite | N/A | heterozygote | 100% (2 of 2) |
| Tail somite | N/A | homozygote | 100% (3 of 3) |
| Tail | N/A | heterozygote | 100% (2 of 2) |
| Tail | N/A | homozygote | 100% (3 of 3) |
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% |
| 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% |
| 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% |
| 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 | 0.0% |
| ear | 0.0% |
| embryo | 0.0% |
| eye | 0.0% |
| footplate | 0.0% |
| forebrain | 0.0% |
| forelimb | 0.0% |
| handplate | 0.0% |
| head | 0.0% |
| heart | 0.0% |
| hindbrain | 0.0% |
| hindlimb | 0.0% |
| liver | 0.0% |
| lung | 0.0% |
| mandibular process | 0.0% |
| maxillary process | 0.0% |
| midbrain | 0.0% |
| oral cavity | 0.0% |
| skin | 0.0% |
| tail | 0.0% |
| tail somite group | 0.0% |
Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.
XRay Images Whole Body Dorso Ventral
6 Images
LacZ Images Wholemount
27 Images
LacZ images wholemount
8 Images
M-Mode Images
32 Images
XRay Images Skull Dorso Ventral Orientation
6 Images
XRay Images Whole Body Lateral Orientation
6 Images
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 Tor1aip1 by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures | OMIM:617072 |
The table below shows human diseases predicted to be associated to Tor1aip1 by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Granulomas, Congenital Cerebral | Neonatal death | OMIM:306300 | |
| Genitourinary Tract Anomalies | Neonatal death | OMIM:305690 | |
| Pyknoachondrogenesis | Stillbirth | OMIM:265880 | |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures | OMIM:617072 |
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| MGI Allele | Allele Type | Produced |
|---|---|---|
| Tor1aip1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
| Tor1aip1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
| Tor1aip1tm1(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
| Tor1aip1tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
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