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 lean body mass | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 2.34×10-07 | ||
dilated heart left ventricle | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 9.47×10-05 | ||
increased heart weight | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 1.19×10-08 | ||
increased bone mineral content | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 2.48×10-05 | ||
decreased total retina thickness | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 3.80×10-10 | ||
abnormal coat appearance | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 9.43×10-13 | ||
abnormal retina inner nuclear layer morphology | Ap1artm2b(EUCOMM)Hmgu | HOM | Early adult | 3.29×10-05 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Wholemount images | heterozygote | 100% (2 of 2) |
Aorta | Wholemount images | heterozygote | 100% (2 of 2) |
Bone | Wholemount images | heterozygote | 100% (2 of 2) |
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) |
Esophagus | Wholemount images | heterozygote | 100% (2 of 2) |
Heart | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Large intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
Mammary gland | Wholemount images | heterozygote | 50% (1 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Ovary | Wholemount images | heterozygote | 50% (1 of 2) |
Oviduct | Wholemount images | heterozygote | 50% (1 of 2) |
Pancreas | Wholemount images | heterozygote | 100% (2 of 2) |
Parathyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Wholemount images | heterozygote | 100% (2 of 2) |
Peyer's patch | Wholemount images | heterozygote | Ambiguous |
Pituitary gland | Wholemount images | heterozygote | 50% (1 of 2) |
Prostate gland | Wholemount images | heterozygote | 50% (1 of 2) |
Skin | Wholemount images | heterozygote | 100% (2 of 2) |
Small intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Thyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Trachea | Wholemount images | heterozygote | 100% (2 of 2) |
Trigeminal V nerve | Wholemount images | heterozygote | 100% (2 of 2) |
Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
Vas deferens | Wholemount images | heterozygote | 50% (1 of 2) |
Vascular system | Wholemount images | heterozygote | 100% (2 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cecum | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | Not available |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Liver | 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) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Urinary bladder | N/A | heterozygote | 100% (2 of 2) |
White adipose tissue | N/A | heterozygote | 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 | 0.0% |
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% |
mesenteric lymph node | |
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% |
urinary bladder | |
uterus | 0.0% |
vas deferens | Unavailable |
vascular system | 0.0% |
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 Ap1ar by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cardiomyopathy, Dilated, 1I | Dilated cardiomyopathy, Cardiomegaly | OMIM:604765 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Obesity, Craniosynostosis, Cardiomegaly | ORPHA:88643 | |
Attrv30M Amyloidosis | Cardiomyopathy, Weight loss, Cardiomegaly, Vitreous floaters | ORPHA:85447 | |
Mucopolysaccharidosis, Type Iiib | Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... | OMIM:252920 | |
Congenital Tricuspid Valve Dysplasia | Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... | ORPHA:555874 | |
Double Outlet Left Ventricle | Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... | ORPHA:3427 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ap1artm2b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Ap1artm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Ap1artm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Ap1artm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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