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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
increased startle reflex | 0610010K14Riktm1.1(KOMP)Vlcg | HET | Early adult | 3.29×10-07 | ||
embryonic lethality prior to organogenesis | 0610010K14Riktm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 | ||
embryonic lethality prior to tooth bud stage | 0610010K14Riktm1.1(KOMP)Vlcg | HOM | E12.5 | 0.00 | ||
preweaning lethality, complete penetrance | 0610010K14Riktm1.1(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 |
---|---|---|---|
Adrenal gland | Section images | heterozygote | 50% (1 of 2) |
Aorta | Section images | heterozygote | 50% (1 of 2) |
Brown adipose tissue | Section images | heterozygote | 100% (2 of 2) |
Cecum | Section images | heterozygote | 50% (1 of 2) |
Cerebellum | Section images | heterozygote | 100% (2 of 2) |
Colon | Section images | heterozygote | 100% (2 of 2) |
Diaphragm | Section images | heterozygote | 50% (1 of 2) |
Duodenum | Section images | heterozygote | 100% (2 of 2) |
Epididymis | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 50% (1 of 2) |
Eye | Section images | heterozygote | 100% (2 of 2) |
Gonadal fat pad | Section images | heterozygote | 100% (2 of 2) |
Harderian gland | Section images | heterozygote | 100% (2 of 2) |
Ileum | Section images | heterozygote | 50% (1 of 2) |
Jejunum | Section images | heterozygote | 50% (1 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Liver | Section images | heterozygote | 50% (1 of 2) |
Lung | Section images | heterozygote | 100% (2 of 2) |
Mesenteric adipose tissue | Section images | heterozygote | 100% (2 of 2) |
Mesenteric lymph node | Section images | heterozygote | 100% (2 of 2) |
Midbrain | Section images | heterozygote | 100% (2 of 2) |
Olfactory lobe | 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) |
Parotid gland | Section images | heterozygote | 50% (1 of 2) |
Penis | Section images | heterozygote | 50% (1 of 2) |
Pituitary gland | Section images | heterozygote | 100% (2 of 2) |
Prostate gland | Section images | heterozygote | 50% (1 of 2) |
Quadriceps | Section images | heterozygote | 50% (1 of 2) |
Sciatic nerve | Section images | heterozygote | 50% (1 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Spinal cord | Section images | heterozygote | 100% (2 of 2) |
Spleen | Section images | heterozygote | 100% (2 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Sublingual gland | Section images | heterozygote | 100% (2 of 2) |
Submandibular gland | Section images | heterozygote | 50% (1 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Thymus | Section images | heterozygote | 100% (2 of 2) |
Thyroid gland | Section images | heterozygote | 50% (1 of 2) |
Tongue | Section images | heterozygote | 50% (1 of 2) |
Trachea | Section images | heterozygote | 100% (2 of 2) |
Trigeminal V nerve | Section images | heterozygote | 100% (2 of 2) |
Urinary bladder | Section images | heterozygote | 100% (2 of 2) |
Uterus | Section images | heterozygote | 50% (1 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) |
Blood | N/A | heterozygote | 0.0% (0 of 2) |
Bone marrow | N/A | heterozygote | 0.0% (0 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brainstem | N/A | heterozygote | Not available |
Cartilage tissue | N/A | heterozygote | Not available |
Cerebral cortex | N/A | heterozygote | Not available |
Chest bone | N/A | heterozygote | Not available |
Gall bladder | N/A | heterozygote | Not available |
Heart | N/A | heterozygote | Not available |
Hindlimb | N/A | heterozygote | Not available |
Hippocampus | N/A | heterozygote | Not available |
Hypothalamus | N/A | heterozygote | Not available |
Large intestine | N/A | heterozygote | 100% (2 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lymph node | N/A | heterozygote | Not available |
Mammary gland | N/A | heterozygote | Not available |
Parathyroid 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 |
Skeletal muscle | N/A | heterozygote | Not available |
Small intestine | N/A | heterozygote | 100% (2 of 2) |
Stomach pyloric region | N/A | heterozygote | Not available |
Striatum | N/A | heterozygote | Not available |
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 5) |
Axial skeleton | N/A | heterozygote | 60% (3 of 5) |
Brain | N/A | heterozygote | 100% (5 of 5) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 5) |
Dorsal root ganglion | N/A | heterozygote | 0.0% (0 of 5) |
Ear | N/A | heterozygote | 20% (1 of 5) |
Embryo | N/A | heterozygote | 100% (5 of 5) |
Eye | N/A | heterozygote | 100% (5 of 5) |
Femur pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 1) |
Footplate | N/A | heterozygote | 100% (5 of 5) |
Forearm | N/A | heterozygote | 0.0% (0 of 5) |
Forebrain | N/A | heterozygote | 60% (3 of 5) |
Forelimb | N/A | heterozygote | 100% (5 of 5) |
Fronto-nasal process | N/A | heterozygote | 60% (3 of 5) |
Handplate | N/A | heterozygote | 100% (5 of 5) |
Head mesenchyme | N/A | heterozygote | 80% (4 of 5) |
Head | N/A | heterozygote | 100% (5 of 5) |
Heart ventricle | N/A | heterozygote | 100% (5 of 5) |
Heart | N/A | heterozygote | 100% (5 of 5) |
Hindbrain | N/A | heterozygote | 60% (3 of 5) |
Hindlimb | N/A | heterozygote | 100% (5 of 5) |
Humerus pre-cartilage condensation | N/A | heterozygote | 0.0% (0 of 2) |
Intestine | N/A | heterozygote | 80% (4 of 5) |
Liver | N/A | heterozygote | 0.0% (0 of 5) |
Lower leg | N/A | heterozygote | 0.0% (0 of 5) |
Lung | N/A | heterozygote | 0.0% (0 of 5) |
Mandibular process | N/A | heterozygote | Ambiguous |
Maxillary process | N/A | heterozygote | Ambiguous |
Meckel's cartilage | N/A | heterozygote | 0.0% (0 of 5) |
Midbrain | N/A | heterozygote | 100% (5 of 5) |
Nasal septum | N/A | heterozygote | 0.0% (0 of 5) |
Nose | N/A | heterozygote | 80% (4 of 5) |
Notochord | N/A | heterozygote | 60% (3 of 5) |
Oral cavity | N/A | heterozygote | 100% (5 of 5) |
Outflow tract | N/A | heterozygote | 0.0% (0 of 5) |
N/A | heterozygote | 0.0% (0 of 5) | |
Chorioallantoic placenta | N/A | heterozygote | Not available |
Radius-ulna pre-cartilage condensation | N/A | heterozygote | Ambiguous |
Rib pre-cartilage condensation | N/A | heterozygote | 20% (1 of 5) |
Skeleton | N/A | heterozygote | 60% (3 of 5) |
Skin | N/A | heterozygote | 100% (5 of 5) |
Spinal cord | N/A | heterozygote | 100% (4 of 4) |
Stomach | N/A | heterozygote | 0.0% (0 of 1) |
Tail somite | N/A | heterozygote | 100% (5 of 5) |
Tail | N/A | heterozygote | 100% (5 of 5) |
Thoracic vertebral cartilage condensation | N/A | heterozygote | Ambiguous |
Tongue | N/A | heterozygote | 0.0% (0 of 5) |
Trunk mesenchyme | N/A | heterozygote | 100% (5 of 5) |
Umbilical artery embryonic part | N/A | heterozygote | 100% (4 of 4) |
Umbilical vein embryonic part | N/A | heterozygote | 100% (4 of 4) |
Upper arm | N/A | heterozygote | 0.0% (0 of 5) |
Upper leg | N/A | heterozygote | 0.0% (0 of 5) |
Vibrissa | N/A | heterozygote | 0.0% (0 of 5) |
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% |
blood | |
bone marrow | |
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% |
chest bone | |
colon | |
diaphragm | 0.0% |
duodenum | 0.0% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | |
heart | 0.0% |
hindlimb | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
ileum | 0.0% |
jejunum | |
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% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | |
midbrain | 0.0% |
olfactory lobe | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
stomach pyloric region | 0.0% |
striatum | 0.0% |
sublingual gland | 0.0% |
submandibular gland | 0.0% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
tongue | 0.0% |
trachea | 0.0% |
trigeminal v nerve | 0.0% |
urinary bladder | |
uterus | 0.0% |
vagina | 0.0% |
vas deferens | Unavailable |
vascular system | 0.0% |
vesicular gland | Unavailable |
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 |
dorsal root ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
femur pre-cartilage condensation | Ambiguous |
footplate | 0.0% |
forearm | Ambiguous |
forebrain | 0.0% |
forelimb | 0.0% |
fronto-nasal process | 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 |
intestine | Ambiguous |
liver | 0.0% |
lower leg | Ambiguous |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
meckel's cartilage | Ambiguous |
midbrain | 0.0% |
nasal septum | Ambiguous |
nose | Ambiguous |
notochord | Ambiguous |
oral cavity | 0.0% |
outflow tract | Ambiguous |
pericardium | Ambiguous |
placenta | 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 |
trunk mesenchyme | Ambiguous |
umbilical artery embryonic part | Ambiguous |
umbilical vein embryonic part | Ambiguous |
upper arm | Ambiguous |
upper leg | Ambiguous |
vibrissa | Ambiguous |
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 0610010K14Rik by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Intellectual Developmental Disorder, Autosomal Recessive 54 | Exaggerated startle response | OMIM:617028 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... | OMIM:608643 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | ORPHA:309246 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Stiff-Person Syndrome | Exaggerated startle response, Opisthotonus | OMIM:184850 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures | Tremor, Exaggerated startle response, Truncal titubation | OMIM:618056 | |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures | Exaggerated startle response | OMIM:620114 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | OMIM:272750 | |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities | Tremor, Exaggerated startle response | OMIM:620327 | |
Leukodystrophy, Hypomyelinating, 13 | Exaggerated startle response | OMIM:616881 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Exaggerated startle response | OMIM:608800 | |
Sandhoff Disease, Infantile Form | Exaggerated startle response | ORPHA:309155 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response, Dystonia | ORPHA:438216 | |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities | Exaggerated startle response | OMIM:617864 | |
Tay-Sachs Disease | Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia | ORPHA:845 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Sandhoff Disease | Exaggerated startle response | OMIM:268800 | |
Developmental And Epileptic Encephalopathy 49 | Exaggerated startle response | OMIM:617281 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response, Dystonia | ORPHA:521426 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response, Dystonia | ORPHA:79255 | |
Asparagine Synthetase Deficiency | Tremor, Exaggerated startle response | OMIM:615574 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response | OMIM:253800 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Exaggerated startle response, Dystonia | ORPHA:438213 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 |
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MGI Allele | Allele Type | Produced |
---|---|---|
0610010K14Riktm213064(L1L2_Bact_P) | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors |
0610010K14Riktm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
0610010K14Riktm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice, Tissue |
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