Gene: Vps37d MGI:2159402
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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 |
---|---|---|---|---|---|---|
unresponsive to tactile stimuli | Vps37dtm2b(EUCOMM)Wtsi | HET | E18.5 | 0.00 | ||
abnormal body wall morphology | Vps37dtm2b(EUCOMM)Wtsi | HOM | E18.5 | 0.00 | ||
decreased locomotor activity | Vps37dtm2b(EUCOMM)Wtsi | HET | Early adult | 1.71×10-05 | ||
preweaning lethality, complete penetrance | Vps37dtm2b(EUCOMM)Wtsi | HOM | Early adult | 0.00 | ||
decreased total retina thickness | Vps37dtm2b(EUCOMM)Wtsi | HET | Early adult | 2.86×10-20 | ||
decreased prepulse inhibition | Vps37dtm2b(EUCOMM)Wtsi | HET | Early adult | 5.35×10-12 | ||
unresponsive to tactile stimuli | Vps37dtm2b(EUCOMM)Wtsi | HOM | E18.5 | 0.00 | ||
abnormal retina inner nuclear layer morphology | Vps37dtm2b(EUCOMM)Wtsi | HET | Early adult | 3.43×10-20 |
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) |
Brainstem | Wholemount images | heterozygote | 100% (2 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) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Trachea | Wholemount images | heterozygote | 100% (2 of 2) |
Vas deferens | Wholemount images | heterozygote | 0.0% (0 of 2) |
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) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cecum | N/A | heterozygote | 0.0% (0 of 2) |
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) |
Kidney | 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) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Ovary | N/A | heterozygote | 50% (1 of 2) |
Oviduct | N/A | heterozygote | 50% (1 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 | Not available |
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) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | 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 | 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 | 0.0% (0 of 3) |
Axial skeleton | N/A | heterozygote | 0.0% (0 of 3) |
Brain | N/A | heterozygote | 0.0% (0 of 3) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 3) |
Cranium | N/A | heterozygote | 0.0% (0 of 3) |
Dorsal root ganglion | N/A | heterozygote | 0.0% (0 of 3) |
Ear | N/A | heterozygote | 0.0% (0 of 3) |
Embryo | N/A | heterozygote | 66.67% (2 of 3) |
Outer ear | N/A | heterozygote | 0.0% (0 of 3) |
Eye | N/A | heterozygote | 0.0% (0 of 3) |
Femur pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 3) |
Footplate | N/A | heterozygote | 0.0% (0 of 3) |
Forearm | N/A | heterozygote | 0.0% (0 of 3) |
Forebrain | N/A | heterozygote | 0.0% (0 of 3) |
Forelimb | N/A | heterozygote | 0.0% (0 of 3) |
Fronto-nasal process | N/A | heterozygote | 0.0% (0 of 3) |
Gut | N/A | heterozygote | 0.0% (0 of 3) |
Handplate | N/A | heterozygote | 0.0% (0 of 3) |
Head mesenchyme | N/A | heterozygote | 66.67% (2 of 3) |
Head | N/A | heterozygote | 66.67% (2 of 3) |
Heart ventricle | N/A | heterozygote | 0.0% (0 of 3) |
Heart | N/A | heterozygote | 0.0% (0 of 3) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 3) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 3) |
Humerus pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 3) |
Inner ear | N/A | heterozygote | 0.0% (0 of 3) |
Intestine | N/A | heterozygote | 0.0% (0 of 3) |
Liver | N/A | heterozygote | 0.0% (0 of 3) |
Lower leg | N/A | heterozygote | 0.0% (0 of 3) |
Lung | N/A | heterozygote | 0.0% (0 of 3) |
Mandibular process | N/A | heterozygote | 33.33% (1 of 3) |
Maxillary process | N/A | heterozygote | 66.67% (2 of 3) |
Mesonephros of female | N/A | heterozygote | 0.0% (0 of 3) |
Mesonephros of male | N/A | heterozygote | 0.0% (0 of 3) |
Metanephros | N/A | heterozygote | 0.0% (0 of 3) |
Midbrain | N/A | heterozygote | 0.0% (0 of 3) |
Nasal septum | N/A | heterozygote | 66.67% (2 of 3) |
Nose | N/A | heterozygote | 66.67% (2 of 3) |
Notochord | N/A | heterozygote | 0.0% (0 of 3) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 3) |
Outflow tract | N/A | heterozygote | 0.0% (0 of 3) |
Pancreas | N/A | heterozygote | 0.0% (0 of 3) |
N/A | heterozygote | 0.0% (0 of 3) | |
Pharynx | N/A | heterozygote | 0.0% (0 of 3) |
Radius-ulna pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 3) |
Rib pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 3) |
Skeleton | N/A | heterozygote | 0.0% (0 of 3) |
Skin | N/A | heterozygote | 0.0% (0 of 3) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 3) |
Stomach | N/A | heterozygote | 0.0% (0 of 3) |
Tail somite | N/A | heterozygote | 0.0% (0 of 3) |
Tail | N/A | heterozygote | 0.0% (0 of 3) |
Thoracic vertebral cartilage condensation | N/A | heterozygote | 0.0% (0 of 3) |
Tongue | N/A | heterozygote | 0.0% (0 of 3) |
Trachea | N/A | heterozygote | 0.0% (0 of 3) |
Trunk mesenchyme | N/A | heterozygote | 0.0% (0 of 3) |
Umbilical artery embryonic part | N/A | heterozygote | 0.0% (0 of 3) |
Umbilical vein embryonic part | N/A | heterozygote | 0.0% (0 of 3) |
Upper arm | N/A | heterozygote | 0.0% (0 of 3) |
Upper leg | N/A | heterozygote | 0.0% (0 of 3) |
Urinary system | N/A | heterozygote | 0.0% (0 of 3) |
Vibrissa | N/A | heterozygote | 0.0% (0 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% |
cecum | 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% |
trigeminal v nerve | 0.0% |
uterus | 0.0% |
vas deferens | Unavailable |
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 | Ambiguous |
axial skeleton | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
cranium | Ambiguous |
dorsal root ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
external ear | Ambiguous |
eye | 0.0% |
femur pre-cartilage condensation | Ambiguous |
footplate | 0.0% |
forearm | Ambiguous |
forebrain | 0.0% |
forelimb | 0.0% |
fronto-nasal process | Ambiguous |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
head mesenchyme | Ambiguous |
heart | 0.0% |
heart ventricle | Ambiguous |
hindbrain | 0.0% |
hindlimb | 0.0% |
humerus pre-cartilage condensation | Ambiguous |
inner ear | Ambiguous |
intestine | Ambiguous |
liver | 0.0% |
lower leg | Ambiguous |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
mesonephros of female | Ambiguous |
mesonephros of male | Ambiguous |
metanephros | Ambiguous |
midbrain | 0.0% |
nasal septum | Ambiguous |
nose | Ambiguous |
notochord | Ambiguous |
oral cavity | 0.0% |
outflow tract | Ambiguous |
pancreas | Ambiguous |
pericardium | Ambiguous |
pharynx | Ambiguous |
radius-ulna pre cartilage condensation | Ambiguous |
rib pre-cartilage condensation | Ambiguous |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
stomach | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
thoracic vertebral cartilage condensation | Ambiguous |
tongue | Ambiguous |
trachea | Ambiguous |
trunk mesenchyme | Ambiguous |
umbilical artery embryonic part | Ambiguous |
umbilical vein embryonic part | Ambiguous |
upper arm | Ambiguous |
upper leg | Ambiguous |
urinary system | Ambiguous |
vibrissa | Ambiguous |
Human diseases caused by Vps37d 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 Vps37d by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Williams Syndrome | Ataxia, Retinal arteriolar tortuosity, Dysmetria, Gait disturbance, Gait imbalance | ORPHA:904 |
The table below shows human diseases predicted to be associated to Vps37d by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Retinal Dysplasia, Primary | Retinal dysplasia, Falciform retinal fold | OMIM:312550 | |
Exudative Vitreoretinopathy 7 | Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration | OMIM:617572 | |
Reese Retinal Dysplasia | Remnants of the hyaloid vascular system, Retinal dysplasia | OMIM:266400 | |
Williams Syndrome | Ataxia, Retinal arteriolar tortuosity, Dysmetria, Gait disturbance, Gait imbalance | ORPHA:904 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Vps37dtm2b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
Vps37dtm2a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Vps37dtm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Vps37dtm2e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
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