Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Section images | heterozygote | 0.0% (0 of 2) |
Aorta | Section images | heterozygote | 100% (2 of 2) |
Bone | Section images | heterozygote | 100% (2 of 2) |
Brain | Section images | heterozygote | 100% (2 of 2) |
Brainstem | Section images | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | Section images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Section images | heterozygote | 50% (1 of 2) |
Cecum | Section images | heterozygote | 100% (2 of 2) |
Cerebellum | Section images | heterozygote | 0.0% (0 of 2) |
Cerebral cortex | Section images | heterozygote | 0.0% (0 of 2) |
Chest bone | Section images | heterozygote | 100% (2 of 2) |
Colon | Section images | heterozygote | 0.0% (0 of 2) |
Cranium | Section images | heterozygote | 0.0% (0 of 2) |
Diaphragm | Section images | heterozygote | 0.0% (0 of 2) |
Duodenum | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 0.0% (0 of 2) |
Eye | Section images | heterozygote | 100% (2 of 2) |
Gall bladder | Section images | heterozygote | 50% (1 of 2) |
Harderian gland | Section images | heterozygote | 100% (2 of 2) |
Heart | Section images | heterozygote | 100% (2 of 2) |
Hindlimb | Section images | heterozygote | 0.0% (0 of 2) |
Hippocampus | Section images | heterozygote | 0.0% (0 of 2) |
Hypothalamus | Section images | heterozygote | 0.0% (0 of 2) |
Ileum | Section images | heterozygote | 100% (2 of 2) |
Jejunum | Section images | heterozygote | 100% (2 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Large intestine | Section images | heterozygote | 50% (1 of 2) |
Liver | Section images | heterozygote | 50% (1 of 2) |
Lower urinary tract | Section images | heterozygote | Ambiguous |
Lung | Section images | heterozygote | 50% (1 of 2) |
Lymph node | Section images | heterozygote | 100% (2 of 2) |
Mammary gland | Section images | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | Section images | heterozygote | 100% (2 of 2) |
Oral epithelium | Section images | heterozygote | 100% (2 of 2) |
Ovary | Section images | heterozygote | 50% (1 of 2) |
Oviduct | Section images | heterozygote | 50% (1 of 2) |
Pancreas | Section images | heterozygote | 100% (2 of 2) |
Parathyroid gland | Section images | heterozygote | 100% (2 of 2) |
Penis | Section images | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | Section images | heterozygote | 0.0% (0 of 2) |
Peyer's patch | Section images | heterozygote | 50% (1 of 2) |
Pituitary gland | Section images | heterozygote | 0.0% (0 of 2) |
Prostate gland | Section images | heterozygote | 50% (1 of 2) |
Quadriceps | Section images | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | Section images | heterozygote | 0.0% (0 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Small intestine | Section images | heterozygote | 100% (2 of 2) |
Spinal cord | Section images | heterozygote | 0.0% (0 of 2) |
Spleen | Section images | heterozygote | 0.0% (0 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Striatum | Section images | heterozygote | 0.0% (0 of 2) |
Submandibular gland | Section images | heterozygote | 100% (2 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Thymus | Section images | heterozygote | 50% (1 of 2) |
Thyroid gland | Section images | heterozygote | 100% (2 of 2) |
Tongue | Section images | heterozygote | 0.0% (0 of 2) |
Trachea | Section images | heterozygote | 50% (1 of 2) |
Urinary bladder | Section images | heterozygote | Ambiguous |
Uterus | Section images | heterozygote | 50% (1 of 2) |
Vagina | Section images | heterozygote | 50% (1 of 2) |
Vascular system | Section images | heterozygote | 0.0% (0 of 2) |
White adipose tissue | Section images | heterozygote | 0.0% (0 of 2) |
Blood | N/A | heterozygote | Not available |
Bone marrow | N/A | heterozygote | Not available |
Epididymis | N/A | heterozygote | Not available |
Gonadal fat pad | N/A | heterozygote | Not available |
Main olfactory bulb | N/A | heterozygote | Not available |
Mesenteric adipose tissue | N/A | heterozygote | Not available |
Mesenteric lymph node | N/A | heterozygote | Not available |
Midbrain | N/A | heterozygote | Not available |
Parotid gland | N/A | heterozygote | Not available |
Sciatic nerve | N/A | heterozygote | Not available |
Stomach pyloric region | N/A | heterozygote | Not available |
Sublingual gland | N/A | heterozygote | Not available |
Thalamus | N/A | heterozygote | Not available |
Trigeminal V nerve | N/A | heterozygote | Not available |
Vas deferens | N/A | heterozygote | Not available |
Vesicular gland | N/A | heterozygote | Not available |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | N/A | heterozygote | Ambiguous |
Central nervous system ganglion | N/A | heterozygote | Ambiguous |
Cranium | N/A | heterozygote | Ambiguous |
Ear | N/A | heterozygote | Ambiguous |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Outer ear | N/A | heterozygote | Ambiguous |
Eye | 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 | Ambiguous |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | Ambiguous |
Hindbrain | N/A | heterozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Humerus pre-cartilage condensation | N/A | heterozygote | Ambiguous |
Inner ear | N/A | heterozygote | Ambiguous |
Liver | N/A | heterozygote | Ambiguous |
Lower leg | N/A | heterozygote | 100% (2 of 2) |
Lung | N/A | heterozygote | Ambiguous |
Mandibular process | N/A | heterozygote | Ambiguous |
Maxillary process | N/A | heterozygote | Ambiguous |
Midbrain | N/A | heterozygote | Ambiguous |
Nose | N/A | heterozygote | 100% (2 of 2) |
Oral cavity | N/A | heterozygote | Ambiguous |
Chorioallantoic placenta | N/A | heterozygote | Not available |
Radius-ulna pre-cartilage condensation | N/A | heterozygote | Ambiguous |
Skeleton | N/A | heterozygote | Ambiguous |
Skin | N/A | heterozygote | 100% (2 of 2) |
Spinal cord | N/A | heterozygote | Ambiguous |
Tail somite | N/A | heterozygote | Ambiguous |
Tail | 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) |
Vibrissa | N/A | heterozygote | Ambiguous |
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) |
blood | 0.0% |
bone | 0.0% |
bone marrow | 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) |
chest bone | Unavailable |
colon | 15.71% (22 of 140) |
cranium | |
diaphragm | 0.0% |
duodenum | 3.57% (5 of 140) |
epididymis | 14.29% (21 of 147) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | 0.71% (1 of 140) |
heart | 0.33% (2 of 598) |
hindlimb | 0.0% |
hippocampus | 0.5% (3 of 598) |
hypothalamus | 0.33% (2 of 598) |
ileum | 14.29% (20 of 140) |
jejunum | 8.57% (12 of 140) |
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) |
main olfactory bulb | 0.0% |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | 0.31% (1 of 323) |
midbrain | 0.0% |
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) |
parotid gland | 0.0% |
penis | 0.0% |
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) |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
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) |
stomach pyloric region | 0.0% |
striatum | 0.5% (3 of 598) |
sublingual gland | 0.0% |
submandibular gland | 1.38% (2 of 145) |
testis | 1% (6 of 598) |
thalamus | 0.0% |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
tongue | 3.57% (5 of 140) |
trachea | 0.5% (3 of 598) |
trigeminal v nerve | 0.0% |
urinary bladder | 0.0% |
uterus | 0.33% (2 of 598) |
vagina | 0.0% |
vas deferens | 4.56% (18 of 395) |
vascular system | 0.0% |
vesicular gland | 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 | 1.17% (6 of 511) |
central nervous system ganglion | 1.37% (1 of 73) |
cranium | 1.56% (1 of 64) |
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) |
footplate | 0.2% (1 of 511) |
forearm | 0.33% (1 of 305) |
forebrain | 0.2% (1 of 511) |
forelimb | 0.2% (1 of 511) |
handplate | 0.2% (1 of 511) |
head | 0.98% (5 of 511) |
heart | 0.2% (1 of 511) |
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) |
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) |
midbrain | 0.2% (1 of 511) |
nose | 1.28% (1 of 78) |
oral cavity | 0.2% (1 of 506) |
placenta | 16.67% (7 of 42) |
radius-ulna pre cartilage condensation | 1.56% (1 of 64) |
skeleton | 1.28% (1 of 78) |
skin | 0.2% (1 of 511) |
spinal cord | 1.39% (1 of 72) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
upper arm | 0.33% (1 of 305) |
upper leg | 0.33% (1 of 305) |
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 Btbd1 by phenotypic similarity.
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 Btbd1.
There are 3 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Btbd11tm1a(EUCOMM)Wtsi | PMC6671969 |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. | PLoS biology (April 2019) | Btbd11tm1a(EUCOMM)Wtsi Btbd12tm1a(EUCOMM)Wtsi | PMC6459510 |
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. | Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) | Btbd11tm1a(EUCOMM)Wtsi | PMC3745610 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Btbd1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Btbd1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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