Gene: Bbox1 MGI:1891372
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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 |
---|---|---|---|---|---|---|
enlarged heart | Bbox1tm1b(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
abnormal midbrain morphology | Bbox1tm1b(KOMP)Wtsi | HOM | E12.5 | 0.00 | ||
enlarged heart | Bbox1tm1a(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
abnormal hindbrain morphology | Bbox1tm1b(KOMP)Wtsi | HOM | E12.5 | 0.00 | ||
abnormal neural tube closure | Bbox1tm1b(KOMP)Wtsi | HOM | E12.5 | 0.00 | ||
male infertility | Bbox1tm1a(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
abnormal craniofacial morphology | Bbox1tm1b(KOMP)Wtsi | HOM | E12.5 | 0.00 | ||
preweaning lethality, incomplete penetrance | Bbox1tm1b(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
abnormal forebrain morphology | Bbox1tm1b(KOMP)Wtsi | HOM | E12.5 | 0.00 | ||
abnormal heart morphology | Bbox1tm1a(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
increased body length | Bbox1tm1b(KOMP)Wtsi | HOM | Early adult | 6.55×10-06 | ||
unresponsive to tactile stimuli | Bbox1tm1b(KOMP)Wtsi | HOM | E18.5 | 0.00 | ||
unresponsive to tactile stimuli | Bbox1tm1b(KOMP)Wtsi | HET | E18.5 | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Bone | Section images | heterozygote | 33.33% (2 of 6) |
Brain | Wholemount images Section images | heterozygote | 75% (6 of 8) |
Brainstem | Wholemount images | heterozygote | 50% (4 of 8) |
Cartilage tissue | Wholemount images Section images | heterozygote | 75% (6 of 8) |
Cerebellum | Wholemount images Section images | heterozygote | 50% (4 of 8) |
Epididymis | Section images | heterozygote | 25% (1 of 4) |
Esophagus | Wholemount images | heterozygote | 25% (2 of 8) |
Ileum | Section images | heterozygote | 50% (1 of 2) |
Jejunum | Section images | heterozygote | 50% (1 of 2) |
Kidney | Wholemount images Section images | heterozygote | 100% (8 of 8) |
Large intestine | Section images | heterozygote | 25% (2 of 8) |
Liver | Wholemount images Section images | heterozygote | 37.5% (3 of 8) |
Lower urinary tract | Wholemount images | heterozygote | 50% (4 of 8) |
Lung | Wholemount images Section images | heterozygote | 50% (4 of 8) |
Midbrain | Section images | heterozygote | 100% (4 of 4) |
Oral epithelium | Wholemount images | heterozygote | 50% (2 of 4) |
Ovary | Section images | heterozygote | 12.5% (1 of 8) |
Oviduct | Wholemount images Section images | heterozygote | 50% (4 of 8) |
Penis | Section images | heterozygote | 50% (1 of 2) |
Peripheral nervous system | Wholemount images | heterozygote | 25% (2 of 8) |
Prostate gland | Wholemount images Section images | heterozygote | 25% (2 of 8) |
Skin | Wholemount images Section images | heterozygote | 100% (8 of 8) |
Small intestine | Wholemount images Section images | heterozygote | 37.5% (3 of 8) |
Spinal cord | Wholemount images Section images | heterozygote | 75% (6 of 8) |
Stomach | Wholemount images Section images | heterozygote | 75% (6 of 8) |
Striatum | Wholemount images | heterozygote | 25% (2 of 8) |
Submandibular gland | Section images | heterozygote | 25% (1 of 4) |
Testis | Wholemount images Section images | heterozygote | 50% (4 of 8) |
Thyroid gland | Wholemount images Section images | heterozygote | 37.5% (3 of 8) |
Tongue | Section images | heterozygote | 50% (1 of 2) |
Trachea | Section images | heterozygote | 25% (2 of 8) |
Urinary bladder | Section images | heterozygote | 50% (2 of 4) |
Uterus | Wholemount images Section images | heterozygote | 25% (2 of 8) |
Vas deferens | Wholemount images Section images | heterozygote | 25% (1 of 4) |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 8) |
Aorta | N/A | heterozygote | 0.0% (0 of 8) |
Blood | N/A | heterozygote | 0.0% (0 of 2) |
Bone marrow | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 8) |
Cecum | N/A | heterozygote | 0.0% (0 of 4) |
Cerebral cortex | N/A | heterozygote | 0.0% (0 of 8) |
Chest bone | N/A | heterozygote | Not available |
Colon | N/A | heterozygote | 0.0% (0 of 2) |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Duodenum | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 8) |
Gall bladder | N/A | heterozygote | 0.0% (0 of 6) |
Gonadal fat pad | N/A | heterozygote | 0.0% (0 of 2) |
Harderian gland | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 8) |
Hindlimb | N/A | heterozygote | Not available |
Hippocampus | N/A | heterozygote | 0.0% (0 of 8) |
Hypothalamus | N/A | heterozygote | 0.0% (0 of 8) |
Lymph node | N/A | heterozygote | 0.0% (0 of 8) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 8) |
Mesenteric adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | N/A | heterozygote | 0.0% (0 of 8) |
Pancreas | N/A | heterozygote | 0.0% (0 of 8) |
Parathyroid gland | N/A | heterozygote | 0.0% (0 of 6) |
Parotid gland | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 8) |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 8) |
Quadriceps | N/A | heterozygote | 0.0% (0 of 2) |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 8) |
Spleen | N/A | heterozygote | 0.0% (0 of 8) |
Stomach pyloric region | N/A | heterozygote | Not available |
Sublingual gland | N/A | heterozygote | 0.0% (0 of 2) |
Thalamus | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 8) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 4) |
Vagina | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | 0.0% (0 of 8) |
Vesicular gland | N/A | heterozygote | 0.0% (0 of 4) |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 8) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Embryo | N/A | heterozygote | 85.71% (6 of 7) |
Heart atrium | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Axial skeleton | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Brain | N/A | heterozygote | 42.86% (3 of 7) |
Brain | N/A | homozygote | 0.0% (0 of 2) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Cranium | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Dorsal root ganglion | N/A | heterozygote | 40% (2 of 5) |
N/A | Ambiguous | ||
Ear | N/A | heterozygote | 0.0% (0 of 7) |
Ear | N/A | homozygote | 0.0% (0 of 2) |
Embryo | N/A | homozygote | 100% (2 of 2) |
Outer ear | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Eye | N/A | heterozygote | 0.0% (0 of 7) |
Eye | N/A | homozygote | 0.0% (0 of 2) |
Femur pre-cartilage condensation | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Footplate | N/A | heterozygote | 14.29% (1 of 7) |
Footplate | N/A | homozygote | 0.0% (0 of 2) |
Forearm | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Forebrain | N/A | heterozygote | 0.0% (0 of 7) |
Forebrain | N/A | homozygote | 0.0% (0 of 2) |
Forelimb | N/A | heterozygote | 71.43% (5 of 7) |
Forelimb | N/A | homozygote | 100% (2 of 2) |
Fronto-nasal process | N/A | heterozygote | 0.0% (0 of 5) |
N/A | Ambiguous | ||
Gut | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Handplate | N/A | heterozygote | 14.29% (1 of 7) |
Handplate | N/A | homozygote | 0.0% (0 of 2) |
Head mesenchyme | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Head | N/A | heterozygote | 42.86% (3 of 7) |
Head | N/A | homozygote | 100% (2 of 2) |
Heart ventricle | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Heart | N/A | heterozygote | 0.0% (0 of 7) |
Heart | N/A | homozygote | 0.0% (0 of 2) |
Hindbrain | N/A | heterozygote | 28.57% (2 of 7) |
Hindbrain | N/A | homozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 71.43% (5 of 7) |
Hindlimb | N/A | homozygote | 100% (2 of 2) |
Humerus pre-cartilage condensation | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Inner ear | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Intestine | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Liver | N/A | heterozygote | 0.0% (0 of 7) |
Liver | N/A | homozygote | 0.0% (0 of 2) |
Lower leg | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Lung | N/A | heterozygote | 0.0% (0 of 7) |
Lung | N/A | homozygote | 0.0% (0 of 2) |
Mandibular process | N/A | heterozygote | 14.29% (1 of 7) |
Mandibular process | N/A | homozygote | 50% (1 of 2) |
Maxillary process | N/A | heterozygote | 42.86% (3 of 7) |
Maxillary process | N/A | homozygote | 0.0% (0 of 2) |
Mesonephros of female | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Mesonephros of male | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Metanephros | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Midbrain | N/A | heterozygote | 0.0% (0 of 7) |
Midbrain | N/A | homozygote | 0.0% (0 of 2) |
Nasal septum | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Nose | N/A | heterozygote | 0.0% (0 of 5) |
N/A | Ambiguous | ||
Notochord | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Oral cavity | N/A | heterozygote | 0.0% (0 of 7) |
Oral cavity | N/A | homozygote | 0.0% (0 of 2) |
Outflow tract | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Pancreas | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
N/A | heterozygote | 0.0% (0 of 3) | |
N/A | Ambiguous | ||
Pharynx | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Radius-ulna pre-cartilage condensation | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Rib pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Skeleton | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Skin | N/A | heterozygote | 0.0% (0 of 7) |
Skin | N/A | homozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 60% (3 of 5) |
N/A | Ambiguous | ||
Stomach | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Tail somite | N/A | heterozygote | 0.0% (0 of 7) |
Tail somite | N/A | homozygote | 0.0% (0 of 2) |
Tail | N/A | heterozygote | 14.29% (1 of 7) |
Tail | N/A | homozygote | 0.0% (0 of 2) |
Thoracic vertebral cartilage condensation | N/A | heterozygote | 25% (1 of 4) |
N/A | Ambiguous | ||
Tongue | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Trachea | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Trunk mesenchyme | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Umbilical artery embryonic part | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Umbilical vein embryonic part | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Upper arm | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Upper leg | N/A | heterozygote | 66.67% (2 of 3) |
N/A | Ambiguous | ||
Urinary system | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous | ||
Vibrissa | N/A | heterozygote | 0.0% (0 of 3) |
N/A | Ambiguous |
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) |
diaphragm | 0.0% |
duodenum | 1.57% (2 of 127) |
epididymis | 13.43% (18 of 134) |
esophagus | 1.71% (7 of 409) |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 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) |
ileum | 11.02% (14 of 127) |
jejunum | 4.72% (6 of 127) |
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) |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | 0.0% |
midbrain | 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) |
quadriceps | 0.0% |
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) |
thalamus | 0.0% |
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% |
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 | 1.18% (6 of 508) |
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 508) |
embryo | 0.2% (1 of 509) |
external ear | 1.35% (1 of 74) |
eye | 0.2% (1 of 508) |
femur pre-cartilage condensation | 1.82% (1 of 55) |
footplate | 0.2% (1 of 508) |
forearm | 0.33% (1 of 305) |
forebrain | 0.2% (1 of 508) |
forelimb | 0.2% (1 of 508) |
fronto-nasal process | 1.64% (1 of 61) |
gut | 1.69% (1 of 59) |
handplate | 0.2% (1 of 508) |
head | 0.98% (5 of 508) |
head mesenchyme | 1.67% (1 of 60) |
heart | 0.2% (1 of 508) |
heart ventricle | 1.67% (1 of 60) |
hindbrain | 1.18% (6 of 508) |
hindlimb | 0.2% (1 of 508) |
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 503) |
lower leg | 0.33% (1 of 305) |
lung | 0.2% (1 of 503) |
mandibular process | 0.2% (1 of 508) |
maxillary process | 0.2% (1 of 508) |
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 508) |
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 503) |
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 508) |
spinal cord | 1.39% (1 of 72) |
stomach | 1.82% (1 of 55) |
tail | 0.2% (1 of 508) |
tail somite group | 0.2% (1 of 508) |
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) |
Human diseases caused by Bbox1 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 Bbox1 by phenotypic similarity.
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 Bbox1
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 Bbox1.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae. | The Journal of comparative neurology (October 2019) | Bbox1tm1b(KOMP)Wtsi | 31609468 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Bbox1tm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Bbox1em1(IMPC)Bay | Exon Deletion | Mice, Tissue |
Bbox1em2(IMPC)Bay | Deletion | Mice |
Bbox1tm2a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Bbox1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells, Tissue |
Bbox1tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
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