Gene: Gjb3 MGI:95721
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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 |
---|---|---|---|---|---|---|
increased mean corpuscular volume | Gjb3tm1.1(KOMP)Vlcg | HET | Early adult | 5.65×10-05 | ||
abnormal skin appearance | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
embryonic growth retardation | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
abnormal heart morphology | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
pallor | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
pale liver | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
abnormal skin coloration | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
abnormal auditory brainstem response | Gjb3tm1.1(KOMP)Vlcg | HET | Early adult | 4.03×10-05 | ||
abnormal embryo size | Gjb3tm1.1(KOMP)Vlcg | HOM | E15.5 | 0.00 | ||
preweaning lethality, complete penetrance | Gjb3tm1.1(KOMP)Vlcg | 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 |
---|---|---|---|
Colon | Section images | heterozygote | 50% (1 of 2) |
Epididymis | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 100% (2 of 2) |
Eye | Section images | heterozygote | 100% (2 of 2) |
Kidney | Section images | heterozygote | 50% (1 of 2) |
Mammary gland | Section images | heterozygote | 50% (1 of 2) |
Penis | Section images | heterozygote | 50% (1 of 2) |
Prostate gland | Section images | heterozygote | 50% (1 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Tongue | Section images | heterozygote | 100% (2 of 2) |
Trachea | Section images | heterozygote | 100% (2 of 2) |
Urinary bladder | Section images | heterozygote | 100% (2 of 2) |
Vagina | Section images | heterozygote | 50% (1 of 2) |
Vas deferens | Section images | heterozygote | 50% (1 of 2) |
Vesicular gland | Section images | heterozygote | 50% (1 of 2) |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Blood | N/A | heterozygote | 0.0% (0 of 2) |
Bone marrow | N/A | heterozygote | 0.0% (0 of 2) |
Brain | N/A | heterozygote | 0.0% (0 of 2) |
Brainstem | N/A | heterozygote | Not available |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | Not available |
Cecum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebellum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebral cortex | N/A | heterozygote | Not available |
Chest bone | N/A | heterozygote | Not available |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Duodenum | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | Not available |
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 | Not available |
Hindlimb | N/A | heterozygote | Not available |
Hippocampus | N/A | heterozygote | Not available |
Hypothalamus | N/A | heterozygote | Not available |
Ileum | N/A | heterozygote | 0.0% (0 of 2) |
Jejunum | N/A | heterozygote | 0.0% (0 of 2) |
Large intestine | N/A | heterozygote | 50% (1 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | Not available |
Mesenteric adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | 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) |
Parotid gland | N/A | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | Not available |
Peyer's patch | N/A | heterozygote | Not available |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Quadriceps | N/A | heterozygote | 0.0% (0 of 2) |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | Not available |
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 pyloric region | N/A | heterozygote | Not available |
Striatum | N/A | heterozygote | Not available |
Sublingual gland | N/A | heterozygote | 0.0% (0 of 2) |
Submandibular gland | N/A | heterozygote | 0.0% (0 of 2) |
Testis | 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) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | Not available |
White adipose tissue | 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 |
---|---|---|---|
Heart atrium | N/A | heterozygote | 0.0% (0 of 3) |
Heart atrium | N/A | homozygote | 0.0% (0 of 2) |
Axial skeleton | N/A | heterozygote | 100% (3 of 3) |
Axial skeleton | N/A | homozygote | 50% (1 of 2) |
Brain | N/A | heterozygote | 0.0% (0 of 3) |
Brain | N/A | homozygote | 50% (1 of 2) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 3) |
Central nervous system ganglion | N/A | homozygote | 0.0% (0 of 2) |
Dorsal root ganglion | N/A | heterozygote | 0.0% (0 of 3) |
Dorsal root ganglion | N/A | homozygote | 0.0% (0 of 2) |
Ear | N/A | heterozygote | 100% (3 of 3) |
Ear | N/A | homozygote | 100% (2 of 2) |
Embryo | N/A | heterozygote | 100% (3 of 3) |
Embryo | N/A | homozygote | 100% (2 of 2) |
Outer ear | N/A | heterozygote | 0.0% (0 of 2) |
Outer ear | N/A | homozygote | 0.0% (0 of 1) |
Eye | N/A | heterozygote | 0.0% (0 of 3) |
Eye | N/A | homozygote | 0.0% (0 of 2) |
Footplate | N/A | heterozygote | 100% (3 of 3) |
Footplate | N/A | homozygote | 100% (2 of 2) |
Forebrain | N/A | heterozygote | 0.0% (0 of 3) |
Forebrain | N/A | homozygote | 0.0% (0 of 2) |
Forelimb | N/A | heterozygote | 100% (3 of 3) |
Forelimb | N/A | homozygote | 100% (2 of 2) |
Fronto-nasal process | N/A | heterozygote | 100% (3 of 3) |
Fronto-nasal process | N/A | homozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 100% (3 of 3) |
Handplate | N/A | homozygote | 100% (2 of 2) |
Head mesenchyme | N/A | heterozygote | 33.33% (1 of 3) |
Head mesenchyme | N/A | homozygote | 0.0% (0 of 2) |
Head | N/A | heterozygote | 0.0% (0 of 3) |
Head | N/A | homozygote | 0.0% (0 of 2) |
Heart ventricle | N/A | heterozygote | 0.0% (0 of 3) |
Heart ventricle | N/A | homozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 33.33% (1 of 3) |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | 0.0% (0 of 3) |
Hindbrain | N/A | homozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 100% (3 of 3) |
Hindlimb | N/A | homozygote | 100% (2 of 2) |
Inner ear | N/A | heterozygote | 100% (3 of 3) |
Inner ear | N/A | homozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 3) |
Liver | N/A | homozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 3) |
Lung | N/A | homozygote | 0.0% (0 of 2) |
Mandibular process | N/A | heterozygote | 33.33% (1 of 3) |
Mandibular process | N/A | homozygote | 100% (2 of 2) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 3) |
Maxillary process | N/A | homozygote | 0.0% (0 of 2) |
Meckel's cartilage | N/A | heterozygote | 0.0% (0 of 3) |
Meckel's cartilage | N/A | homozygote | 0.0% (0 of 2) |
Metanephros | N/A | heterozygote | 100% (3 of 3) |
Metanephros | N/A | homozygote | 100% (2 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 3) |
Midbrain | N/A | homozygote | 0.0% (0 of 2) |
Nasal septum | N/A | heterozygote | 0.0% (0 of 3) |
Nasal septum | N/A | homozygote | 0.0% (0 of 2) |
Nose | N/A | heterozygote | 100% (3 of 3) |
Nose | N/A | homozygote | 100% (2 of 2) |
Notochord | N/A | heterozygote | 0.0% (0 of 3) |
Notochord | N/A | homozygote | 0.0% (0 of 2) |
Oral cavity | N/A | heterozygote | 33.33% (1 of 3) |
Oral cavity | N/A | homozygote | 100% (2 of 2) |
Outflow tract | N/A | heterozygote | 0.0% (0 of 3) |
Outflow tract | N/A | homozygote | 0.0% (0 of 2) |
N/A | heterozygote | 33.33% (1 of 3) | |
N/A | homozygote | 100% (2 of 2) | |
Pharynx | N/A | heterozygote | 0.0% (0 of 1) |
N/A | Ambiguous | ||
Skeleton | N/A | heterozygote | 33.33% (1 of 3) |
Skeleton | N/A | homozygote | 50% (1 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 3) |
Skin | N/A | homozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 3) |
Spinal cord | N/A | homozygote | 0.0% (0 of 2) |
Tail somite | N/A | heterozygote | 0.0% (0 of 3) |
Tail somite | N/A | homozygote | 0.0% (0 of 2) |
Tail | N/A | heterozygote | 0.0% (0 of 3) |
Tail | N/A | homozygote | 0.0% (0 of 2) |
Tongue | N/A | heterozygote | Ambiguous |
Tongue | N/A | homozygote | 100% (2 of 2) |
Trunk mesenchyme | N/A | heterozygote | 0.0% (0 of 3) |
Trunk mesenchyme | N/A | homozygote | 0.0% (0 of 2) |
Vibrissa | N/A | heterozygote | 0.0% (0 of 3) |
Vibrissa | N/A | homozygote | 0.0% (0 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.71% (4 of 564) |
aorta | 0.18% (1 of 557) |
blood | 0.0% |
bone marrow | 0.0% |
brain | 0.87% (5 of 574) |
brainstem | 0.36% (2 of 556) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.18% (1 of 561) |
cecum | 5.98% (22 of 368) |
cerebellum | 0.54% (3 of 554) |
cerebral cortex | 0.18% (1 of 560) |
chest bone | Unavailable |
colon | 16.15% (21 of 130) |
diaphragm | 0.0% |
duodenum | 3.94% (5 of 127) |
epididymis | 13.48% (19 of 141) |
esophagus | 1.8% (7 of 389) |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | 0.73% (1 of 137) |
heart | 0.35% (2 of 564) |
hindlimb | 0.0% |
hippocampus | 0.36% (2 of 558) |
hypothalamus | 0.35% (2 of 565) |
ileum | 13.43% (18 of 134) |
jejunum | 9.16% (12 of 131) |
kidney | 4.61% (26 of 564) |
large intestine | 5.58% (31 of 556) |
liver | 0.0% |
lower urinary tract | 0.18% (1 of 560) |
lung | 0.36% (2 of 554) |
lymph node | 0.18% (1 of 557) |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | 0.0% |
midbrain | 0.0% |
olfactory lobe | 0.36% (2 of 554) |
ovary | 0.18% (1 of 566) |
oviduct | 0.0% |
pancreas | 0.87% (5 of 574) |
parathyroid gland | 0.18% (1 of 546) |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.35% (2 of 569) |
peyers patch | 0.0% |
pituitary gland | 0.18% (1 of 558) |
prostate gland | 1.96% (11 of 561) |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.18% (1 of 563) |
small intestine | 5.65% (31 of 549) |
spinal cord | 0.36% (2 of 558) |
spleen | 0.36% (2 of 550) |
stomach | 3.74% (21 of 561) |
stomach pyloric region | 0.0% |
striatum | 0.53% (3 of 563) |
sublingual gland | 0.0% |
submandibular gland | 1.49% (2 of 134) |
testis | 1.08% (6 of 553) |
thymus | 0.18% (1 of 553) |
thyroid gland | 3.18% (18 of 566) |
tongue | 3.73% (5 of 134) |
trachea | 0.54% (3 of 557) |
trigeminal v nerve | 0.0% |
urinary bladder | 0.0% |
uterus | 0.35% (2 of 566) |
vagina | 0.0% |
vas deferens | 4.79% (18 of 376) |
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 510) |
central nervous system ganglion | 1.37% (1 of 73) |
dorsal root ganglion | 1.67% (1 of 60) |
ear | 0.2% (1 of 510) |
embryo | 0.39% (2 of 511) |
external ear | 1.35% (1 of 74) |
eye | 0.2% (1 of 510) |
footplate | 0.2% (1 of 510) |
forebrain | 0.2% (1 of 510) |
forelimb | 0.2% (1 of 510) |
fronto-nasal process | 1.64% (1 of 61) |
handplate | 0.2% (1 of 510) |
head | 0.98% (5 of 510) |
head mesenchyme | 1.67% (1 of 60) |
heart | 0.2% (1 of 510) |
heart ventricle | 1.67% (1 of 60) |
hindbrain | 1.18% (6 of 510) |
hindlimb | 0.2% (1 of 510) |
inner ear | 1.56% (1 of 64) |
liver | 0.2% (1 of 505) |
lung | 0.2% (1 of 505) |
mandibular process | 0.2% (1 of 510) |
maxillary process | 0.2% (1 of 510) |
meckel's cartilage | 0.0% |
metanephros | 1.82% (1 of 55) |
midbrain | 0.2% (1 of 510) |
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 505) |
outflow tract | 1.67% (1 of 60) |
pericardium | 1.82% (1 of 55) |
pharynx | 1.79% (1 of 56) |
skeleton | 1.28% (1 of 78) |
skin | 0.2% (1 of 510) |
spinal cord | 1.39% (1 of 72) |
tail | 0.2% (1 of 510) |
tail somite group | 0.2% (1 of 510) |
tongue | 1.82% (1 of 55) |
trunk mesenchyme | 1.67% (1 of 60) |
vibrissa | 1.35% (1 of 74) |
Human diseases caused by Gjb3 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 associated to Gjb3 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Deafness, Autosomal Dominant 2B | High-frequency hearing impairment | OMIM:612644 | |
Erythrokeratodermia Variabilis | Hypermelanotic macule, Irregular hyperpigmentation, Short stature, Erythema, Dry skin | ORPHA:317 | |
Erythrokeratodermia Variabilis Et Progressiva 1 | Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis | OMIM:133200 | |
Deafness, Autosomal Recessive 1A | Sensorineural hearing impairment | OMIM:220290 |
The table below shows human diseases predicted to be associated to Gjb3 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Gjb3tm214962(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Gjb3tm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice, Tissue |
Gjb3tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
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