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 pulmonary ventilation | Gpank1tm1.1(KOMP)Vlcg | HOM | Early adult | 1.51×10-05 | ||
decreased pulmonary ventilation | Gpank1tm1.1(KOMP)Vlcg | HOM | Early adult | 3.59×10-05 | ||
increased tidal volume | Gpank1tm1.1(KOMP)Vlcg | HOM | Early adult | 8.32×10-08 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
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 | 100% (2 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 |
Colon | N/A | heterozygote | 50% (1 of 2) |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Duodenum | N/A | heterozygote | 0.0% (0 of 2) |
Epididymis | N/A | heterozygote | 50% (1 of 2) |
Esophagus | N/A | heterozygote | 50% (1 of 2) |
Eye | 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 | 50% (1 of 2) |
Jejunum | N/A | heterozygote | 0.0% (0 of 2) |
Kidney | 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 |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
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 | 50% (1 of 2) |
Olfactory lobe | N/A | heterozygote | 50% (1 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) |
Penis | 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) |
Prostate gland | N/A | heterozygote | 50% (1 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 |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 50% (1 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 |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
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) |
Tongue | N/A | heterozygote | 50% (1 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 2) |
Urinary bladder | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vagina | N/A | heterozygote | 0.0% (0 of 2) |
Vas deferens | N/A | heterozygote | 50% (1 of 2) |
Vascular system | N/A | heterozygote | Not available |
Vesicular gland | N/A | heterozygote | 0.0% (0 of 2) |
White adipose tissue | N/A | heterozygote | Not available |
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% |
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 Gpank1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Obesity-Hypoventilation Syndrome | Hypoventilation | OMIM:257500 | |
Athabaskan Brainstem Dysgenesis Syndrome | Central hypoventilation | OMIM:601536 | |
Central Hypoventilation Syndrome, Congenital, 3 | Central hypoventilation | OMIM:619483 | |
Ullrich Congenital Muscular Dystrophy 2 | Nocturnal hypoventilation | OMIM:616470 | |
Joubert Syndrome 17 | Hyperventilation | OMIM:614615 | |
Mitochondrial Complex I Deficiency, Nuclear Type 9 | Hypoventilation | OMIM:618232 | |
Perry Syndrome | Central hypoventilation | ORPHA:178509 | |
Chronic Pneumonitis Of Infancy | Hyperventilation | ORPHA:91359 | |
Postpoliomyelitis Syndrome | Hypoventilation | ORPHA:2942 | |
Pitt-Hopkins-Like Syndrome 2 | Hyperventilation | OMIM:614325 | |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills | Hyperventilation | OMIM:617903 | |
Perry Syndrome | Hypoventilation, Central hypoventilation | OMIM:168605 | |
Adult-Onset Cervical Dystonia, Dyt23 Type | Hyperventilation | ORPHA:420492 | |
Fructose-1,6-Bisphosphatase Deficiency | Hyperventilation | OMIM:229700 | |
Joubert Syndrome 8 | Hyperventilation | OMIM:612291 | |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | Hyperventilation | ORPHA:98784 | |
Childhood Absence Epilepsy | Hyperventilation | ORPHA:64280 | |
Pitt-Hopkins-Like Syndrome 1 | Hyperventilation | OMIM:610042 | |
Myasthenic Syndrome, Congenital, 20, Presynaptic | Hypoventilation | OMIM:617143 | |
Holocarboxylase Synthetase Deficiency | Hyperventilation | OMIM:253270 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hyperventilation | OMIM:618775 | |
Central Hypoventilation Syndrome, Congenital, 1 | Nocturnal hypoventilation, Hypoventilation, Central hypoventilation | OMIM:209880 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 | Hypoventilation | OMIM:620275 | |
Developmental And Epileptic Encephalopathy 2 | Hyperventilation | OMIM:300672 | |
Muscular Dystrophy, Duchenne Type | Hypoventilation | OMIM:310200 | |
Encephalitis Lethargica | Hyperventilation | ORPHA:83600 | |
Rett Syndrome | Intermittent hyperventilation | OMIM:312750 | |
Congenital Disorder Of Glycosylation, Type Iib | Hypoventilation | OMIM:606056 | |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion | Hypoventilation | ORPHA:314655 | |
Cntnap2-Related Developmental And Epileptic Encephalopathy | Intermittent hyperventilation | ORPHA:163681 | |
Cholera | Hyperventilation | ORPHA:173 | |
Bethlem Muscular Dystrophy | Hypoventilation | ORPHA:610 | |
Fructose-1,6-Bisphosphatase Deficiency | Intermittent hyperventilation | ORPHA:348 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Hypoventilation | OMIM:618493 | |
Rabin-Pappas Syndrome | Hypoventilation | OMIM:620155 | |
Biotinidase Deficiency | Hyperventilation | ORPHA:79241 | |
Intellectual Developmental Disorder, Autosomal Dominant 57 | Hyperventilation | OMIM:618050 | |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia | Intermittent hyperventilation | OMIM:300749 | |
Synaptic Congenital Myasthenic Syndromes | Hypoventilation | ORPHA:98915 | |
Intellectual Developmental Disorder, Autosomal Dominant 54 | Hyperventilation | OMIM:617799 | |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome | Hyperventilation | ORPHA:522077 | |
Proximal Spinal Muscular Atrophy | Hypoventilation | ORPHA:70 | |
Mogs-Cdg | Hypoventilation | ORPHA:79330 | |
Pitt-Hopkins Syndrome | Intermittent hyperventilation | OMIM:610954 | |
Pitt-Hopkins Syndrome | Hyperventilation | ORPHA:2896 | |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy | Aspiration, Hypoventilation | ORPHA:258 | |
Mitochondrial Dna-Associated Leigh Syndrome | Hyperventilation | ORPHA:255210 | |
Prader-Willi Syndrome | Hypoventilation | OMIM:176270 | |
Cocaine Intoxication | Hyperventilation | ORPHA:90068 | |
Charcot-Marie-Tooth Disease Type 4C | Hypoventilation | ORPHA:99949 | |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction | Hypoventilation | OMIM:619482 | |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) | Hypoventilation | OMIM:203700 | |
Acute Liver Failure | Hyperventilation | ORPHA:90062 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Hypoventilation, Central hypoventilation | ORPHA:293987 | |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures | Hypoventilation | OMIM:620455 | |
Autosomal Recessive Polycystic Kidney Disease | Hypoventilation | ORPHA:731 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Hypoventilation | ORPHA:438213 | |
Pallister-Killian Syndrome | Hyperventilation | OMIM:601803 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Gpank1tm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice, Tissue |
Gpank1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
Gpank1tm232439(L1L2_Bact_P) | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors |
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