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 |
|---|---|---|---|---|---|---|
| absent vibrissae | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 7.92×10-05 | ||
| decreased prepulse inhibition | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 3.13×10-05 | ||
| hyperactivity | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 0.00 | ||
| abnormal gait | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 6.89×10-16 | ||
| abnormal locomotor behavior | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 4.60×10-11 | ||
| limb grasping | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 1.02×10-14 | ||
| trunk curl | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 3.49×10-06 | ||
| decreased grip strength | Frrs1ltm1b(EUCOMM)Hmgu | HOM | Early adult | 3.52×10-05 | ||
| preweaning lethality, incomplete penetrance | Frrs1ltm1b(EUCOMM)Hmgu | 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 |
|---|---|---|---|
| Brain | Wholemount images | heterozygote | 100% (2 of 2) |
| Brainstem | 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) |
| 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) |
| Cartilage tissue | N/A | heterozygote | 0.0% (0 of 2) |
| Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
| Eye | N/A | heterozygote | 0.0% (0 of 2) |
| 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 | 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) |
| Peripheral nervous system | N/A | heterozygote | 100% (2 of 2) |
| Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
| Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
| 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) |
| Trachea | 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) |
Background staining occurs in wild type mice and embryos at an incidental rate.
| Anatomy | Background staining in controls (WT) |
|---|---|
| adrenal gland | 0.67% (4 of 598) |
| aorta | 0.17% (1 of 598) |
| bone | 0.0% |
| brain | 0.84% (5 of 598) |
| brainstem | 0.33% (2 of 598) |
| brown adipose tissue | 0.0% |
| cartilage tissue | 0.17% (1 of 598) |
| cerebellum | 0.5% (3 of 598) |
| cerebral cortex | 0.33% (2 of 598) |
| esophagus | 1.66% (7 of 422) |
| eye | 0.0% |
| gall bladder | 0.0% |
| heart | 0.33% (2 of 598) |
| hippocampus | 0.5% (3 of 598) |
| hypothalamus | 0.33% (2 of 598) |
| kidney | 4.52% (27 of 598) |
| large intestine | 5.35% (32 of 598) |
| liver | 0.0% |
| lower urinary tract | 0.17% (1 of 598) |
| lung | 0.33% (2 of 598) |
| lymph node | 0.17% (1 of 598) |
| mammary gland | 0.0% |
| olfactory lobe | 0.33% (2 of 598) |
| oral epithelium | 0.0% |
| ovary | 0.17% (1 of 598) |
| oviduct | 0.0% |
| pancreas | 0.84% (5 of 598) |
| parathyroid gland | 0.17% (1 of 576) |
| peripheral nervous system | 0.33% (2 of 598) |
| peyers patch | 0.0% |
| pituitary gland | 0.17% (1 of 598) |
| prostate gland | 2.17% (13 of 598) |
| skeletal muscle | 0.0% |
| skin | 0.17% (1 of 598) |
| small intestine | 5.35% (32 of 598) |
| spinal cord | 0.5% (3 of 598) |
| spleen | 0.5% (3 of 598) |
| stomach | 3.68% (22 of 598) |
| striatum | 0.5% (3 of 598) |
| testis | 1% (6 of 598) |
| thymus | 0.17% (1 of 598) |
| thyroid gland | 3.01% (18 of 598) |
| trachea | 0.5% (3 of 598) |
| uterus | 0.33% (2 of 598) |
| vascular system | 0.0% |
| white adipose tissue | 0.0% |
Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.
XRay Images Whole Body Lateral Orientation
19 Images
XRay Images Whole Body Dorso Ventral
19 Images
XRay Images Skull Dorso Ventral Orientation
19 Images
LacZ Images Wholemount
6 Images
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 Frrs1l by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Developmental And Epileptic Encephalopathy 37 | Choreoathetosis, Gait disturbance | OMIM:616981 | |
| Continuous Spikes And Waves During Sleep | Dystonia | ORPHA:725 |
The table below shows human diseases predicted to be associated to Frrs1l by phenotypic similarity.
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Frrs1l.
There are 3 publications which use IMPC produced mice or data.
| Title | Journal | IMPC Allele | PubMed ID |
|---|---|---|---|
| An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity. | Neuron (October 2019) | Frrs1ltm1a(EUCOMM)Hmgu Frrs1ltm1b(EUCOMM)Hmgu | 31604597 |
| Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities. | Disease models & mechanisms (February 2019) | Frrs1ltm1a(EUCOMM)Hmgu Frrs1ltm1b(EUCOMM)Hmgu | PMC6398485 |
| Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. | American journal of human genetics (May 2016) | Frrs1ltm1b(EUCOMM)Hmgu | PMC4908178 |
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| MGI Allele | Allele Type | Produced |
|---|---|---|
| Frrs1ltm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
| Frrs1ltm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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